ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1983+1G>A

dbSNP: rs2149321922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784699 SCV002017698 pathogenic not provided 2019-12-13 criteria provided, single submitter clinical testing
Invitae RCV001784699 SCV002270733 likely pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1323316). Disruption of this splice site has been observed in individual(s) with autosomal recessive deafness (PMID: 26944241). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 19 of the MYO6 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 MYO6 are known to be pathogenic (PMID: 12687499, 18348273, 23767834, 25999546, 30582396).
PreventionGenetics, part of Exact Sciences RCV004536308 SCV004114736 pathogenic MYO6-related disorder 2022-09-28 criteria provided, single submitter clinical testing The MYO6 c.1983+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in the homozygous state in a patient with seizures and congenital prelingual hearing loss, with only the mother reported as being heterozygous and no hearing loss being noted (Lazaridis et al. 2016. PubMed ID: 26944241; Vairo et al. 2017. PubMed ID: 28831385; Klee et al. 2020. PubMed ID: 33144682). This variant has not been reported in a large population database (, indicating this variant is rare. Variants that disrupt the consensus splice donor site in MYO6 are expected to be pathogenic. This variant is interpreted as pathogenic.

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