ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.658A>G (p.Arg220Gly)

gnomAD frequency: 0.00001  dbSNP: rs782454035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192895 SCV000248349 uncertain significance not specified 2014-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001061137 SCV001225869 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 220 of the NSDHL protein (p.Arg220Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs782454035, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with NSDHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 211751). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.

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