ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.161C>T (p.Ala54Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004768455 SCV005375477 uncertain significance Tay-Sachs disease 2024-10-21 criteria provided, single submitter clinical testing A homozygous missense variant in exon 1 of the HEXA gene that results in the amino acid substitution of Valine for Alanine at codon 54 (p.Ala54Val) was detected. This variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomAD (v2.1) and topmed databases. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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