ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.383C>G (p.Thr128Arg)

dbSNP: rs769034450
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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 RCV001897920 SCV002159799 uncertain significance Hereditary spastic paraplegia 28 2021-10-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 128 of the DDHD1 protein (p.Thr128Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. 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. 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 tolerated.

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