ClinVar Miner

Submissions for variant NM_018417.6(ADCY10):c.3746T>C (p.Phe1249Ser)

gnomAD frequency: 0.00006  dbSNP: rs368942743
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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 RCV001991885 SCV002277582 uncertain significance not provided 2021-08-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ADCY10-related conditions. This variant is present in population databases (rs368942743, ExAC 0.001%). This sequence change replaces phenylalanine with serine at codon 1249 of the ADCY10 protein (p.Phe1249Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.
Fulgent Genetics, Fulgent Genetics RCV002486602 SCV002783079 uncertain significance Familial idiopathic hypercalciuria 2021-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045498 SCV003603888 uncertain significance not specified 2021-12-20 criteria provided, single submitter clinical testing The c.3746T>C (p.F1249S) alteration is located in exon 26 (coding exon 25) of the ADCY10 gene. This alteration results from a T to C substitution at nucleotide position 3746, causing the phenylalanine (F) at amino acid position 1249 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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