ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.285+1G>C (rs782661097)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672808 SCV000797952 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000478716 SCV000567330 pathogenic not provided 2015-08-20 criteria provided, single submitter clinical testing The c.285+1 G>C splice site variant in the MYO7A gene destroys the canonical splice donor site inintron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. Therefore, we interpret the c.285+1 G>C variant in MYO7A to be pathogenic.

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