ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1412A>G (p.His471Arg)

gnomAD frequency: 0.00009  dbSNP: rs377283613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003299077 SCV003976132 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.1412A>G (p.H471R) alteration is located in exon 12 (coding exon 11) of the WDR72 gene. This alteration results from a A to G substitution at nucleotide position 1412, causing the histidine (H) at amino acid position 471 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012849 SCV005638200 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-05-06 criteria provided, single submitter clinical testing

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