ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-2A>G

dbSNP: rs1060499803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000454153 SCV002059928 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2020-08-01 criteria provided, single submitter research Analysis of patient-derived RNA indicates that MYO7A c.4153-2A>G disrupts the splice acceptor of MYO7A exon 32, leading to loss of 87bp in message and loss of aa 1385-1441 from the FERM1 domain (Abu Rayyan 2020). The variant is homozygous in 6 children with severe to profound hearing loss from 3 Palestinian families. The variant was absent from 1300 Palestinian controls and absent from gnomAD v2.1.1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861651 SCV002242183 pathogenic not provided 2021-11-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 402268). Disruption of this splice site has been observed in individuals with autosomal recessive congenital non-syndromic deafness (PMID: 24105371). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 31 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). 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.
Hereditary Research Laboratory, Bethlehem University RCV000454153 SCV000538107 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2016-06-04 no assertion criteria provided research severe-profound

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