ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr)

gnomAD frequency: 0.00045  dbSNP: rs201304831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229654 SCV000290649 likely benign Left ventricular noncompaction 8 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001705285 SCV000582942 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518357 SCV003676988 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.2741T>C (p.M914T) alteration is located in exon 11 (coding exon 11) of the PRDM16 gene. This alteration results from a T to C substitution at nucleotide position 2741, causing the methionine (M) at amino acid position 914 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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