ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)

gnomAD frequency: 0.00015  dbSNP: rs151251788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670557 SCV000795420 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670557 SCV001420806 uncertain significance Tay-Sachs disease 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 410 of the HEXA protein (p.Ala410Val). This variant is present in population databases (rs151251788, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554854). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV000670557 SCV002085674 uncertain significance Tay-Sachs disease 2018-07-24 no assertion criteria provided clinical testing

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