ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)

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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 RCV003082843 SCV003482582 uncertain significance Tay-Sachs disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 276 of the HEXA protein (p.Pro276Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004985192 SCV005604595 uncertain significance Inborn genetic diseases 2024-11-07 criteria provided, single submitter clinical testing The c.826C>G (p.P276A) alteration is located in exon 8 (coding exon 8) of the HEXA gene. This alteration results from a C to G substitution at nucleotide position 826, causing the proline (P) at amino acid position 276 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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