ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2187+1G>A (rs111033290)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036079 SCV000059731 likely pathogenic Rare genetic deafness 2007-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000519124 SCV000616804 likely pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.2187+1 G>A splice site variant has been previously reported in association with Usher syndrome (Adato et al., 1997). This variant destroys the canonical splice donor site in intron 18, and is expected to cause abnormal gene splicing. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be likely pathogenic.
Athena Diagnostics Inc RCV000519124 SCV001144660 likely pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. The best available variant frequency is uninformative because it is below the disease allele frequency.
Invitae RCV000519124 SCV001582288 pathogenic not provided 2020-10-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the MYO7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome type I (PMID: 9382091, 19074810). This variant is also known as IVS18 +1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 43175). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000666968 SCV000791347 pathogenic Deafness, autosomal recessive 2 2017-05-10 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003084 SCV001161143 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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