ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)

dbSNP: rs267606979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065774 SCV001230757 uncertain significance Lethal congenital glycogen storage disease of heart 2019-12-19 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 16487706). ClinVar contains an entry for this variant (Variation ID: 6856). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces serine with proline at codon 548 of the PRKAG2 protein (p.Ser548Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency).
OMIM RCV000007259 SCV000027455 pathogenic Hypertrophic cardiomyopathy 6 2006-03-01 no assertion criteria provided literature only

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