ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) (rs371203080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523970 SCV000619708 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing The S340L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S340L variant is observed in 1/10406 (0.01%) alleles from individuals of African background in the ExAC dataset. The S340L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174073 SCV001337193 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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