ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val)

gnomAD frequency: 0.00001  dbSNP: rs1560592333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266761 SCV002548854 uncertain significance Microcephaly 18, primary, autosomal dominant 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534020 SCV004119609 uncertain significance WDFY3-related disorder 2022-10-26 criteria provided, single submitter clinical testing The WDFY3 c.7684T>G variant is predicted to result in the amino acid substitution p.Phe2562Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-85639645-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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