ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)

gnomAD frequency: 0.00002  dbSNP: rs1474809251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053189 SCV001217436 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004977935 SCV005566368 uncertain significance Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing The c.65G>A (p.S22N) alteration is located in exon 1 (coding exon 1) of the DIAPH1 gene. This alteration results from a G to A substitution at nucleotide position 65, causing the serine (S) at amino acid position 22 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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