ClinVar Miner

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

dbSNP: rs782292032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669696 SCV000794473 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823085 SCV000963927 pathogenic not provided 2023-08-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of autosomal recessive Usher syndrome (PMID: 29490346, 31456290; Invitae). ClinVar contains an entry for this variant (Variation ID: 554125). 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.
CeGaT Center for Human Genetics Tuebingen RCV000823085 SCV001245964 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485549 SCV002797151 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-01-20 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004698347 SCV005199923 pathogenic Autosomal recessive nonsyndromic hearing loss 2 2024-08-20 criteria provided, single submitter research A known pathogenic variants according to Deafness Variation Database and ClinVar based on PMID: 29490346. This c.285+2T>G variant was detected in an hearing impaired individual with a sloping audiogram, normal-to-severe HL, in compound heterozygosity with another known pathogenic variant, p.(Ala826Thr).
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003079 SCV001161138 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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