ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)

dbSNP: rs727504743
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Total submissions: 5
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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 RCV000156042 SCV000205755 likely benign not specified 2021-06-29 criteria provided, single submitter clinical testing The p.Glu970del variant in MYO6 is likely benign because it has been identified in 0.08% (29/35102) of Latino chromosomes by gnomAD ( The variant has been reported in 1 European individual with sensorineural hearing loss (Sommen 2016 PMID:27068579), and our lab has seen this variant in 1 individual with hearing loss who carried additional pathogenic variants sufficient to explain their clinical presentation. This variant has also been reported in ClinVar (Variation ID 179255). This variant is a deletion of 1 amino acids at position 970 and is not predicted to alter the protein reading-frame. ACMG/AMP Criteria applied:PM4_Supporting, BS1, BP5.
GeneDx RCV000657951 SCV000779721 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing The c.2907_2909delAGA variant in the MYO6 gene has been reported previously in association with nonsyndromic SNHL with limited evidence for pathogenicity (Sommen et al., 2016). The variant is observed in 1/836 (0.1196%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The c.2907_2909delAGA variant results in an in-frame deletion of one amino acid. In summary, based on the currently available information, it is unclear whether this is a pathogenic variant or a rare benign variant.
Eurofins Ntd Llc (ga) RCV000657951 SCV000859392 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000657951 SCV001021965 likely benign not provided 2023-01-16 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000156042 SCV001984323 uncertain significance not specified 2020-03-19 criteria provided, single submitter clinical testing

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