ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys)

gnomAD frequency: 0.00016  dbSNP: rs143813159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221278 SCV001393310 uncertain significance Hereditary spastic paraplegia 28 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 381 of the DDHD1 protein (p.Gln381Lys). This variant is present in population databases (rs143813159, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 949744). 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 DDHD1 protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792813 SCV005409711 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing PM2

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