ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg)

gnomAD frequency: 0.00001  dbSNP: rs1161880335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852758 SCV000995476 likely benign Cardiomyopathy 2019-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363201 SCV002663392 uncertain significance Cardiovascular phenotype 2024-06-03 criteria provided, single submitter clinical testing The c.658G>A (p.G220R) alteration is located in exon 6 (coding exon 6) of the TRPM4 gene. This alteration results from a G to A substitution at nucleotide position 658, causing the glycine (G) at amino acid position 220 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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