ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2742T>C (p.Ala914=)

gnomAD frequency: 0.00004  dbSNP: rs753812144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756916 SCV000884900 likely benign not provided 2018-04-12 criteria provided, single submitter clinical testing The c.2742T>C; p.Ala914Ala variant (rs753812144) does not alter the amino acid sequence of the WDR19 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasias in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.003% (identified on 8 out of 262,984 chromosomes). Based on the available information, the c.2742T>C variant is likely to be benign.
Invitae RCV001455522 SCV001659284 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485961 SCV002796584 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540080 SCV004774231 likely benign WDR19-related disorder 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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