ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10865G>C (p.Arg3622Pro)

gnomAD frequency: 0.00001  dbSNP: rs772305401
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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 RCV002776336 SCV003030888 uncertain significance Jeune thoracic dystrophy 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 3629 of the DYNC2H1 protein (p.Arg3629Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with short-rib polydactyly syndrome type I (PMID: 27925158). 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. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005406526 SCV006073779 uncertain significance not specified 2025-04-30 criteria provided, single submitter clinical testing Variant summary: DYNC2H1 c.10886G>C (p.Arg3629Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 246656 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.10886G>C has been observed in the compound heterozygous state in at least one individual affected with Short-rib thoracic dysplasia (Badiner_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 27925158). ClinVar contains an entry for this variant (Variation ID: 1987917). Based on the evidence outlined above, the variant was classified as uncertain significance.

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