|| common in clinvar
|| carrier of a possible allele for renal glycosuria
|| renal glycosuria possible, but see discussion
rs61742739, also known as c.1961A>G, p.Asn654Ser and N654S, represents a rare variant in the SLC5A2 gene on chromosome 16.
Mutations in the SLC5A2 gene are reported to cause a familial form of renal glycosuria, with both dominant and recessive forms of inheritance reported. The rs61742739(G) allele was reported along with another SLC5A2 mutation in a patient with glycosuria, implying it is recessive, which was also consistent in that the patient's parents, one of whom was heterozygous for rs61742739(G), were not reported as having glycosuria.[PMID 14614622]
However, GET-Evidence states that some authors believe this variant is nonpathogenic. The literature cited is consistent with this variant being either benign or recessive (and possibly of variable penetrance).
|| Low clinical importance, Uncertain pathogenic
|| Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.