ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.536A>G (p.His179Arg)

gnomAD frequency: 0.00001  dbSNP: rs747372270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000520360 SCV000230940 uncertain significance not provided 2015-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000520360 SCV000617695 likely pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing The H179R variant in the HEXA gene has been reported previously in an individual with Tay-Sachs disease who was heterozygous for the H179R variant and another variant (Gort et al., 2012). The H179R variant is not observed in large population cohorts (Lek et al., 2016). The H179R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same (H179Y) and nearby residues (D175A, R178C, R178L, R178H, Y180H) have been reported in the Human Gene Mutation Database in association with Tay-Sachs disease (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret H179R as a likely pathogenic variant.
Natera, Inc. RCV001832027 SCV002086297 likely pathogenic Tay-Sachs disease 2020-09-24 no assertion criteria provided clinical testing

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