ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1205C>T (p.Ala402Val)

gnomAD frequency: 0.00008  dbSNP: rs368624639
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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 RCV002760010 SCV003756879 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1205C>T (p.A402V) alteration is located in exon 11 (coding exon 10) of the WDR72 gene. This alteration results from a C to T substitution at nucleotide position 1205, causing the alanine (A) at amino acid position 402 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011198 SCV005638205 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-05-22 criteria provided, single submitter clinical testing

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