ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)

dbSNP: rs1217876329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670593 SCV000795463 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670593 SCV003484308 uncertain significance Tay-Sachs disease 2018-04-12 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 102 of the HEXA protein (p.Pro102Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HEXA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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