|(C;C)||0||common in clinvar|
|(C;T)||3||Unaffected carrier of a mutation for spastic paraplegia, type 7|
|(T;T)||7||Spastic paraplegia, type 7; however, possibly reduced penetrance|
rs61755320, also known as c.1529C>T, p.Ala510Val and A510V, represents a variant in the SPG7 gene on chromosome 16.
The minor allele, rs61755320(T), appears to be associated with autosomal recessive spastic paraplegia, type 7, a disease known "to have a variable, but generally adult, age of onset". An extensive discussion of whether this variant is pathogenic can be found in [PMID 27181684]; the consensus amongst nine labs seems to be that this mutation, which has a higher frequency than similar mutations, may be of reduced penetrance and may represent an allele that is more likely to be pathogenic when paired with a more deleterious allele than when homozygous (on it's own).
|Disease||Spastic paraplegia 7 not provided|
|CLNDBN||Spastic paraplegia 7 not provided|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000034858.11, RCV000195683.2, RCV000198007.1,|