ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)

gnomAD frequency: 0.00003  dbSNP: rs780673583
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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 RCV000647164 SCV000768952 likely benign Dilated cardiomyopathy 1DD 2024-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798948 SCV002042304 uncertain significance Cardiomyopathy 2020-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449057 SCV002612272 uncertain significance Cardiovascular phenotype 2024-11-15 criteria provided, single submitter clinical testing The c.3226G>T (p.A1076S) alteration is located in exon 11 (coding exon 11) of the RBM20 gene. This alteration results from a G to T substitution at nucleotide position 3226, causing the alanine (A) at amino acid position 1076 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000647164 SCV002812715 uncertain significance Dilated cardiomyopathy 1DD 2021-08-20 criteria provided, single submitter clinical testing

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