ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.30G>C (p.Gln10His)

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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 RCV002730387 SCV003011709 uncertain significance Hereditary spastic paraplegia 54 2022-01-26 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: "Not Available"; Align-GVGD: "Class C0". The histidine 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 DDHD2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 10 of the DDHD2 protein (p.Gln10His).

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