ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) (rs201825699)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000336961 SCV000366739 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403491 SCV000366740 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756056 SCV000883768 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing The DYNC2H1 c.7462G>A; p.Asp2488Asn variant (rs201825699), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.03% (identified on 71 out of 268,962 chromosomes) and is classified as a variant of unknown significance in ClinVar (ID: 302062). The aspartic acide at position 2488 is highly conserved, considering 28 species, and computational analyses of the effects of the p.Asp2488Asn variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Asp2488Asn variant cannot be determined with certainty.

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