ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)

dbSNP: rs1064796736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485487 SCV000573770 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing The R341K variant in the SEPSECS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R341K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R341K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R341K as a variant of uncertain significance.
Natera, Inc. RCV001834574 SCV002082959 uncertain significance Pontocerebellar hypoplasia type 2D 2021-02-18 no assertion criteria provided clinical testing

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