ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr)

gnomAD frequency: 0.00007  dbSNP: rs376771682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499625 SCV000594325 uncertain significance not specified 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535389 SCV000652452 uncertain significance Hereditary spastic paraplegia 54 2022-06-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 210 of the DDHD2 protein (p.Pro210Thr). This variant is present in population databases (rs376771682, gnomAD 0.01%). 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: 434909). 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.
Ambry Genetics RCV002527234 SCV003729320 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.628C>A (p.P210T) alteration is located in exon 6 (coding exon 5) of the DDHD2 gene. This alteration results from a C to A substitution at nucleotide position 628, causing the proline (P) at amino acid position 210 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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