ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.819G>A (p.Leu273=)

gnomAD frequency: 0.00001  dbSNP: rs876661134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218737 SCV000279636 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing To our knowledge, the c.819 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant. The c.819 G>A variant results in a synonymous amino acid substitution (L237L) and splice algorithms predict that this variant creates a weak cryptic splice acceptor site downstream from the natural acceptor site. This substitution occurs at a position that is conserved in mammals. In addition, c.819 G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765447 SCV004587044 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-10-08 criteria provided, single submitter clinical testing

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