ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp)

gnomAD frequency: 0.00013  dbSNP: rs201479015
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180413 SCV000232840 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing
Invitae RCV001243113 SCV001416249 uncertain significance Jeune thoracic dystrophy 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3916 of the DYNC2H1 protein (p.Gly3916Asp). This variant is present in population databases (rs201479015, gnomAD 0.06%). This missense change has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 21211617). ClinVar contains an entry for this variant (Variation ID: 30350). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Blueprint Genetics RCV000180413 SCV001832481 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000023292 SCV002049871 uncertain significance Asphyxiating thoracic dystrophy 3 2021-02-12 criteria provided, single submitter clinical testing The DYNC2H1 c.11747G>A; p.Gly3916Asp variant (rs201479015) is reported in the literature in an individual who was affected with short-rib polydactyly syndrome; however a second variant was not identified (Thiel 2011). This variant is also reported in ClinVar (Variation ID: 30350) and the general population with an allele frequency of 0.019% (52/268,762 alleles) in the Genome Aggregation Database. The glycine at codon 3916 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.17). Due to limited information, the clinical significance of the p.Gly3916Asp variant is uncertain at this time.
GeneDx RCV000180413 SCV002578631 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing Observed with a NEK1 gene variant in a patient with SRP in published literature (Thiel et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21211617, 22795106, 29458881, 22482978, 34426522, 34582081)
OMIM RCV000023292 SCV000044583 pathogenic Asphyxiating thoracic dystrophy 3 2011-01-07 no assertion criteria provided literature only

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