ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.285+2T>C (rs782292032)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578756 SCV000681080 likely pathogenic not provided 2018-09-04 criteria provided, single submitter clinical testing The c.285+2 T>C splice site variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In summary, this variant is likely pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613318 SCV000713173 pathogenic Rare genetic deafness 2017-05-21 criteria provided, single submitter clinical testing The c.285+2T>C variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome. Data from large population studies is insuf ficient to assess the frequency of this variant. This variant occurs in the inva riant region (+/- 1/2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. Loss of function of the MYO7A gene is an established disease mechanism in Usher syndrome. In summar y, this variant meets criteria to be classified as pathogenic for autosomal rece ssive hearing loss or Usher syndrome based on predicted impact to the protein.
Mendelics RCV000988600 SCV001138379 pathogenic Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing

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