ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn)

gnomAD frequency: 0.00006  dbSNP: rs776010269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244367 SCV002512943 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003146526 SCV003834659 uncertain significance Autosomal dominant auditory neuropathy 1 2022-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004907781 SCV005566402 uncertain significance not specified 2024-10-01 criteria provided, single submitter clinical testing The c.2121A>C (p.K707N) alteration is located in exon 18 (coding exon 18) of the DIAPH3 gene. This alteration results from a A to C substitution at nucleotide position 2121, causing the lysine (K) at amino acid position 707 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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