ClinVar Miner

Submissions for variant NC_000004.11:g.(?_120095665)_(120107238_?)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 RCV001993025 SCV002236111 uncertain significance Hypertrophic cardiomyopathy 2020-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with MYOZ2-related conditions. This variant results in the deletion of part of exon 6 (c.560+10116_678del) of the MYOZ2 gene. It affects a nucleotide within the consensus splice site of the intron.

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