ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)

dbSNP: rs150022595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474992 SCV000556974 benign Left ventricular noncompaction 8 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001550035 SCV001770303 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000414615 SCV000492424 uncertain significance not specified 2016-12-14 flagged submission clinical testing A variant of uncertain significance has been identified in the PRDM16 gene. The L939V variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. Although the L939V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, it occurs at a position that is conserved across species. Furthermore, in silico analysis predicts this variant may be damaging to the protein structure/function. Nevertheless, ExAC reports L939V was observed in approximately 0.8% of alleles from individuals of East Asian ancestry, indicating it may be a rare benign variant in this population.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or a rare benign variant in individuals of Asian ancestry. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252771 SCV001163914 uncertain significance Microcephaly no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003902459 SCV004723201 benign PRDM16-related disorder 2019-06-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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