ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.665A>T (p.Asp222Val) (rs1556001304)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522772 SCV000618419 likely pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing The D222V variant in the SMS gene has not been reported previously as a pathogenic variant, nor as abenign variant, to our knowledge. The D222V variant is not observed at a significant frequency inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome VariantServer). The D222V variant is a non-conservative amino acid substitution, which is likely to impactsecondary 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 thisvariant is probably damaging to the protein structure/function. We interpret D222V as a likelypathogenic variant.
GenomeConnect, ClinGen RCV000509103 SCV000607250 not provided SMS-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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