ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)

gnomAD frequency: 0.00002  dbSNP: rs374371115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263345 SCV002544877 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing WDFY3: PP2, BS2
Revvity Omics, Revvity RCV003138135 SCV003823688 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365722 SCV004065018 uncertain significance Inborn genetic diseases 2023-07-14 criteria provided, single submitter clinical testing The c.9304G>A (p.V3102M) alteration is located in exon 61 (coding exon 58) of the WDFY3 gene. This alteration results from a G to A substitution at nucleotide position 9304, causing the valine (V) at amino acid position 3102 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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