ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1241G>A (p.Gly414Asp)

dbSNP: rs762316191
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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 RCV001883517 SCV002138024 uncertain significance Hereditary spastic paraplegia 28 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 421 of the DDHD1 protein (p.Gly421Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DDHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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