ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.73C>T (p.His25Tyr)

gnomAD frequency: 0.00002  dbSNP: rs140795787
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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 RCV000818450 SCV000959064 uncertain significance Carney complex, type 1 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 25 of the PRKAR1A protein (p.His25Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 661103). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV001026388 SCV001188758 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-26 criteria provided, single submitter clinical testing The p.H25Y variant (also known as c.73C>T), located in coding exon 1 of the PRKAR1A gene, results from a C to T substitution at nucleotide position 73. The histidine at codon 25 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569738 SCV005052469 uncertain significance Acrodysostosis 1 with or without hormone resistance 2024-03-26 criteria provided, single submitter clinical testing

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