ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)

gnomAD frequency: 0.00001  dbSNP: rs753862880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819747 SCV000960425 uncertain significance Tay-Sachs disease 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 196 of the HEXA protein (p.Asn196Ser). This variant is present in population databases (rs753862880, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of HEXA-related conditions (PMID: 7717398). ClinVar contains an entry for this variant (Variation ID: 662159). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV000819747 SCV002086291 uncertain significance Tay-Sachs disease 2017-11-16 no assertion criteria provided clinical testing

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