ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)

dbSNP: rs768840152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520472 SCV000620227 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing The Y164C variant in the SEPSECS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y164C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y164C 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. We interpret Y164C as a variant of uncertain significance.
Natera, Inc. RCV001834702 SCV002082963 uncertain significance Pontocerebellar hypoplasia type 2D 2021-04-26 no assertion criteria provided clinical testing

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