ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371499 SCV002684410 uncertain significance Inborn genetic diseases 2016-08-26 criteria provided, single submitter clinical testing The p.S310F variant (also known as c.929C>T), located in coding exon 8 of the HEXA gene, results from a C to T substitution at nucleotide position 929. The serine at codon 310 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6496 samples (12992 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100136 SCV003483935 uncertain significance Tay-Sachs disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 310 of the HEXA protein (p.Ser310Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. 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. 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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