ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.452C>T (p.Pro151Leu)

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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 RCV002938607 SCV003264307 uncertain significance Hereditary spastic paraplegia 28 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 151 of the DDHD1 protein (p.Pro151Leu). This variant is present in population databases (rs201057717, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected 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 tolerated. 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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