ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro)

gnomAD frequency: 0.00003  dbSNP: rs755632915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765069 SCV001989649 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032811 SCV002155171 uncertain significance Hereditary spastic paraplegia 28 2020-11-06 criteria provided, single submitter clinical testing 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DDHD1-related conditions. This variant is present in population databases (rs755632915, ExAC 0.002%). This sequence change replaces leucine with proline at codon 517 of the DDHD1 protein (p.Leu517Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV004040095 SCV004853868 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.1529T>C (p.L510P) alteration is located in exon 7 (coding exon 7) of the DDHD1 gene. This alteration results from a T to C substitution at nucleotide position 1529, causing the leucine (L) at amino acid position 510 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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