ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.132+5G>A

dbSNP: rs397516284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036044 SCV000059696 likely pathogenic Rare genetic deafness 2010-09-02 criteria provided, single submitter clinical testing The 132+5G>A variant has not been reported in the literature but was identified by our laboratory in a patient with Usher syndrome and a second MYO7A variant. T he 132+5G>A variant is located in the 5' splice region and affects the +5 positi on which is the most conserved position after the +1 and +2 positions. In summar y, this variant is likely to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513367 SCV003439849 uncertain significance not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MYO7A gene. It does not directly change the encoded amino acid sequence of the MYO7A protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with deafness and/or Usher syndrome (PMID: 27208204; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 43140). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225545 SCV000282596 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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