ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu)

dbSNP: rs144016130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760699 SCV001990446 uncertain significance not provided 2019-07-25 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 that this variant does not alter protein structure/function; In addition, in-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002538814 SCV002978520 uncertain significance Hereditary spastic paraplegia 28 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 810 of the DDHD1 protein (p.His810Leu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1307281). 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 tolerated. 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 RCV002538815 SCV003670467 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.2408A>T (p.H803L) alteration is located in exon 11 (coding exon 11) of the DDHD1 gene. This alteration results from a A to T substitution at nucleotide position 2408, causing the histidine (H) at amino acid position 803 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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