ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.337A>G (p.Ser113Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060422 SCV003447847 uncertain significance Hereditary spastic paraplegia 28 2022-05-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. This variant is present in population databases (rs200797826, gnomAD 0.2%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 113 of the DDHD1 protein (p.Ser113Gly).

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