ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)

dbSNP: rs1057519462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000416422 SCV001589167 pathogenic Tay-Sachs disease 2021-08-13 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine RCV000416422 SCV002073318 uncertain significance Tay-Sachs disease criteria provided, single submitter clinical testing The missense variant p.T263I in HEXA (NM_000520.6) has been submitted to ClinVar as Likely Pathogenic.However no clinical details are available to make an independent assesment. The p.T263I variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T263I missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 263 of HEXA is conserved in all mammalian species. The nucleotide c.788 in HEXA is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000416422 SCV000494216 likely pathogenic Tay-Sachs disease 2011-03-14 no assertion criteria provided research

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