ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)

gnomAD frequency: 0.00001  dbSNP: rs571331592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907993 SCV002144100 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1216 of the WDR19 protein (p.Met1216Val). This variant is present in population databases (rs571331592, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1372340). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002478190 SCV002789394 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681281 SCV005177680 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.3646A>G (p.M1216V) alteration is located in exon 33 (coding exon 33) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 3646, causing the methionine (M) at amino acid position 1216 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815699 SCV005070223 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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