ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1030C>G (p.His344Asp)

gnomAD frequency: 0.00063  dbSNP: rs76599296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756915 SCV000884898 uncertain significance not provided 2018-03-25 criteria provided, single submitter clinical testing The WDR19 c.1030C>G; p.His344Asp variant (rs76599296), 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 African population frequency of 0.2% (identified on 40 out of 24,008 chromosomes, including one homozygote). The histidine at position 344 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.His344Asp variant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: possibly damaging). Based on the available information, the clinical significance of the p.His344Asp variant cannot be determined with certainty.
Invitae RCV001087115 SCV001098677 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279517 SCV002567151 uncertain significance Connective tissue disorder 2022-02-10 criteria provided, single submitter clinical testing

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