ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)

gnomAD frequency: 0.00001  dbSNP: rs1004182733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658063 SCV000779834 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing The G130D variant in the SEPSECS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G130D variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The G130D 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. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G130D as a variant of uncertain significance.
Natera, Inc. RCV001829820 SCV002082964 uncertain significance Pontocerebellar hypoplasia type 2D 2020-09-24 no assertion criteria provided clinical testing

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