ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2668G>C (p.Asp890His)

dbSNP: rs202164262
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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 RCV001371731 SCV001568307 uncertain significance Hereditary spastic paraplegia 28 2020-09-01 criteria provided, single submitter clinical testing 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: "Possibly 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. This variant has not been reported in the literature in individuals with DDHD1-related conditions. This sequence change replaces aspartic acid with histidine at codon 869 of the DDHD1 protein (p.Asp869His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs202164262, ExAC 0.02%).

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