ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.7655-7C>G

gnomAD frequency: 0.00211  dbSNP: rs191171943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598704 SCV000710548 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing The c.7655-7 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 162/24020 (0.674%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.7655-7 C>G damages the natural splice acceptor site and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000598704 SCV000711135 benign not specified 2017-01-25 criteria provided, single submitter clinical testing c.7655-7C>G in intron 39 of MYO15A: This variant is not expected to have clinica l significance because it has been identified in 0.6% (59/9796) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs191171943).
Invitae RCV002532700 SCV003264994 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117371 SCV003800260 likely benign Autosomal recessive nonsyndromic hearing loss 3 2022-07-15 criteria provided, single submitter clinical testing

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