ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.380C>T (p.Pro127Leu)

gnomAD frequency: 0.00001  dbSNP: rs775474803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002699 SCV001156401 pathogenic Mevalonic aciduria 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV003442138 SCV004168155 uncertain significance not provided 2023-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28341476)
Dept Of Ophthalmology, Nagoya University RCV003890156 SCV004707726 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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