ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)

gnomAD frequency: 0.00004  dbSNP: rs774137001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539291 SCV000650677 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000539291 SCV000894524 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024186 SCV003697727 uncertain significance Cardiovascular phenotype 2022-01-26 criteria provided, single submitter clinical testing The c.926G>A (p.R309Q) alteration is located in exon 4 (coding exon 4) of the BAG3 gene. This alteration results from a G to A substitution at nucleotide position 926, causing the arginine (R) at amino acid position 309 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004760587 SCV005373358 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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