ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe)

gnomAD frequency: 0.00001  dbSNP: rs1368918637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680602 SCV000808030 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026161 SCV003623672 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-09 criteria provided, single submitter clinical testing The c.314C>T (p.S105F) alteration is located in exon 2 (coding exon 2) of the PRKG1 gene. This alteration results from a C to T substitution at nucleotide position 314, causing the serine (S) at amino acid position 105 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003741213 SCV004553754 uncertain significance Aortic aneurysm, familial thoracic 8 2023-08-16 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 561327). This variant has not been reported in the literature in individuals affected with PRKG1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 105 of the PRKG1 protein (p.Ser105Phe).

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