ClinVar Miner

Submissions for variant NM_018417.6(ADCY10):c.4530C>G (p.Cys1510Trp)

gnomAD frequency: 0.00052  dbSNP: rs114703390
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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 RCV004194155 SCV003693374 uncertain significance not specified 2022-11-30 criteria provided, single submitter clinical testing The c.4530C>G (p.C1510W) alteration is located in exon 32 (coding exon 31) of the ADCY10 gene. This alteration results from a C to G substitution at nucleotide position 4530, causing the cysteine (C) at amino acid position 1510 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003410204 SCV004116259 likely benign ADCY10-related disorder 2024-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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