ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1555-8C>G (rs1057517774)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413907 SCV000490656 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing The c.1555-8 C>G splice variant in the MYO7A gene has been reported previously in association with Usher syndrome type I (Le Guedard-Mereuze et al., 2010). Le Guedard-Mereuze and colleagues performed ex vivo splicing assays in order to determine how this variant affected the splice site. c.1555-8 C>G is predicted to decrease the strength of the canonical splice acceptor site of intron 13, possibly by creating a cryptic acceptor site. The c.6050-9 G>A variant was not observed at any significant frequency in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. We interpret c.1555-8 C>G variant in MYO7A to be a pathogenic variant.
Counsyl RCV000667896 SCV000792410 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000413907 SCV000951306 pathogenic not provided 2018-12-13 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the MYO7A gene. It does not directly change the encoded amino acid sequence of the MYO7A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Usher syndrome (PMID: 8900236, 21436283, 27957503, 16679490). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 372430). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20052763). For these reasons, this variant has been classified as Pathogenic.

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