ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3504-1G>C

gnomAD frequency: 0.00001  dbSNP: rs1555090171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670122 SCV000794939 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855536 SCV002243637 pathogenic not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 27 of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 15660226, 24199935, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS27-1G>C. ClinVar contains an entry for this variant (Variation ID: 554480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005004341 SCV005632244 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-03-20 criteria provided, single submitter clinical testing

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