ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)

gnomAD frequency: 0.00009  dbSNP: rs201386329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493867 SCV000583192 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000812471 SCV000952785 uncertain significance Hereditary spastic paraplegia 54 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 461 of the DDHD2 protein (p.Ala461Val). This variant is present in population databases (rs201386329, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 430398). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DDHD2 protein function with a negative predictive value of 80%. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848860 SCV002104603 uncertain significance Hereditary spastic paraplegia 2021-06-07 criteria provided, single submitter clinical testing

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