ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) (rs200728983)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236255 SCV000292859 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The R1171L variant has been previously reported as a homozygous pathogenic variant in a young adult with motor and sensory neuropathy, reduced nerve conduction velocity, and a family history suggestive of an autosomal recessive disorder (Yger et al., 2012). Additionally, a different amino acid substitution at the same position (R1171C) has been published as a homozygous mutation in a patient with CMT4C (Hayashi et al., 2013). R1171L was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R1171L is a non-conservative amino acid substitution that alters a position in the protein that is conserved across species. In silico analysis predicts this variant is probably damaging to protein structure/function. Therefore, R1171L is interpreted to be a disease-causing variant
Inherited Neuropathy Consortium RCV000790211 SCV000929603 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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