ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1904A>G (p.His635Arg)

gnomAD frequency: 0.00002  dbSNP: rs763696990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364390 SCV001560536 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 635 of the WDR19 protein (p.His635Arg). This variant is present in population databases (rs763696990, gnomAD 0.05%). 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: 1055679). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002550045 SCV003687709 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.1904A>G (p.H635R) alteration is located in exon 17 (coding exon 17) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 1904, causing the histidine (H) at amino acid position 635 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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