ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)

gnomAD frequency: 0.00001  dbSNP: rs1184637689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176401 SCV001340377 uncertain significance Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces alanine with valine at codon 238 of the PRKAG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Labcorp Genetics (formerly Invitae), Labcorp RCV001350874 SCV001545297 likely benign Lethal congenital glycogen storage disease of heart 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032996 SCV003578432 uncertain significance Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The c.713C>T (p.A238V) alteration is located in exon 5 (coding exon 5) of the PRKAG2 gene. This alteration results from a C to T substitution at nucleotide position 713, causing the alanine (A) at amino acid position 238 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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