ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.431+5G>C (rs772009177)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457368 SCV000550873 uncertain significance Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MYOM1 mRNA. It does not directly change the encoded amino acid sequence of the MYOM1 protein. This variant is present in population databases (rs772009177, ExAC 0.03%) but has not been reported in the literature in individuals with a MYOM1-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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