ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) (rs143032801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000236423 SCV000615242 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724178 SCV000225418 uncertain significance not provided 2014-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000724178 SCV000292722 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SH3TC2 gene. The R621H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R621H variant is observed in 44/10,252 (0.4%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R621H 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. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000654226 SCV000776116 likely benign Charcot-Marie-Tooth disease type 4 2017-11-15 criteria provided, single submitter clinical testing

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