ClinVar Miner

Submissions for variant NM_022041.3(GAN):c.355A>T (p.Thr119Ser) (rs141396595)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489083 SCV000577140 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing The T119S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T119S variant is observed in 29/10406 (0.28%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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 not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. However, a missense variant in a nearby residue (F124C) has been reported in the Human Gene Mutation Database in association with giant axonal neuropathy (Stenson et al., 2014).
Invitae RCV000874825 SCV001017055 likely benign Giant axonal neuropathy 1 2020-11-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507350 SCV001712868 uncertain significance not provided 2019-09-08 criteria provided, single submitter clinical testing

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