ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)

gnomAD frequency: 0.00219  dbSNP: rs202071528
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179218 SCV000231429 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000179218 SCV000883766 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The DYNC2H1 p.Ala3085Val variant (rs202071528) has not been reported in the medical literature, nor has it been previously identified in our laboratory. The p.Ala3085Val variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.72% in theAfrican population (identified in 172 out of 24,006 chromosomes), and is classified as a variant of uncertain significance in ClinVar (Variant ID: 198017). The alanine at codon 3085 is highly conserved considering 12 species up to baker’s yeast (Alamut software v2.10.0), and computational analyses predict that this variant does affect the structure/function of the DYNC2H1 protein (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing). However, based on the available information, the clinical significance of the p.Ala3085Val variant cannot be determined with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516790 SCV001003561 likely benign Jeune thoracic dystrophy 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000179218 SCV001783515 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907625 SCV004726963 benign DYNC2H1-related disorder 2020-04-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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