ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)

gnomAD frequency: 0.00009  dbSNP: rs139718374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498150 SCV000590111 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000498150 SCV002290242 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 195 of the SEPSECS protein (p.Gly195Asp). This variant is present in population databases (rs139718374, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SEPSECS-related conditions. ClinVar contains an entry for this variant (Variation ID: 432393). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001829417 SCV002082961 uncertain significance Pontocerebellar hypoplasia type 2D 2019-11-11 no assertion criteria provided clinical testing

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