ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg)

dbSNP: rs1600461789
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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 RCV000797705 SCV000937280 uncertain significance Carney complex, type 1 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 5 of the PRKAR1A protein (p.Ser5Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRKAR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 643895). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PRKAR1A protein function with a negative predictive value of 95%. 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.
Baylor Genetics RCV004569551 SCV005052479 uncertain significance Acrodysostosis 1 with or without hormone resistance 2024-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649324 SCV005151254 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-31 criteria provided, single submitter clinical testing The p.S5R variant (also known as c.13A>C), located in coding exon 1 of the PRKAR1A gene, results from an A to C substitution at nucleotide position 13. The serine at codon 5 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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