ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1141+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003329195 SCV004035967 uncertain significance Atrial septal defect 3 2023-01-18 criteria provided, single submitter clinical testing The MYH6 c.1141+2T>C variant results in the substitution of a thymidine within the consensus splice donor site with a cytosine, which may result in splicing defects leading to loss of function. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1141+2T>C variant is classified as a variant of uncertain significance for atrial septal defect.

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