ClinVar Miner

Submissions for variant NC_000022.10:g.(?_50512625)_(50518846_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004579290 SCV005068040 pathogenic not provided 2022-12-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MLC1 protein in which other variant(s) (p.Gly212Arg) have been determined to be pathogenic (PMID: 11254442, 18757878, 21145992, 27322623). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MLC1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-8 of the MLC1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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