ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)

gnomAD frequency: 0.00007  dbSNP: rs193261227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462937 SCV000548692 uncertain significance Hereditary spastic paraplegia 28 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 818 of the DDHD1 protein (p.Ser818Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs193261227, ExAC 0.02%). 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: 408872). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001509453 SCV001716184 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168807 SCV003865747 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2432C>G (p.S811C) alteration is located in exon 11 (coding exon 11) of the DDHD1 gene. This alteration results from a C to G substitution at nucleotide position 2432, causing the serine (S) at amino acid position 811 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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