ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)

dbSNP: rs1577943727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325366 SCV001516358 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1025091). 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 replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 687 of the WDR19 protein (p.His687Tyr).
Fulgent Genetics, Fulgent Genetics RCV002486303 SCV002790817 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004679079 SCV005177686 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.2059C>T (p.H687Y) alteration is located in exon 18 (coding exon 18) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 2059, causing the histidine (H) at amino acid position 687 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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