ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948217 SCV003273101 likely benign not provided 2024-06-06 criteria provided, single submitter clinical testing
GeneDx RCV002948217 SCV004028315 uncertain significance not provided 2023-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003358030 SCV004057265 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.2890G>T (p.A964S) alteration is located in exon 15 (coding exon 15) of the ADCY5 gene. This alteration results from a G to T substitution at nucleotide position 2890, causing the alanine (A) at amino acid position 964 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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