ClinVar Miner

Submissions for variant NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del)

dbSNP: rs750852737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000585672 SCV000693442 risk factor BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 2018-03-28 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004748831 SCV005361138 uncertain significance ADCY3-related disorder 2023-12-30 no assertion criteria provided clinical testing The ADCY3 c.3357_3359delCTT variant is predicted to result in an in-frame deletion (p.Phe1119del). This variant, also known as c.3354_3356del, has been reported in the compound heterozygous state in a patient with severe obesity and was associated with decreased catalytic activity in functional assays (see family 4 in Saeed et al. 2018. PubMed ID: 29311637). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. We suspect this variant is a cause of disease when present with a pathogenic variant on the other chromosome. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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