ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs1021076498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002030665 SCV002274276 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-06-13 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the WDR19 protein in which other variant(s) (p.Phe5Ser) have been observed in individuals with WDR19-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1486432). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the WDR19 mRNA. The next in-frame methionine is located at codon 60.

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