ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)

dbSNP: rs111033416
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Total submissions: 6
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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 RCV000036066 SCV000059718 likely benign not specified 2015-01-22 criteria provided, single submitter clinical testing p.Arg623His in exon 16 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.325% (26/7988) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; rs111033416). Although this variant has been reported in the heterozygous state in one individual with retinal dystrophy (Watson 2014) and in three indiv iduals with hearing loss by our laboratory, the population frequency indicates t hat it is likely benign.
Counsyl RCV000664583 SCV000788571 likely benign Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-10-03 criteria provided, single submitter clinical testing
Invitae RCV000933794 SCV001079503 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000933794 SCV001812160 uncertain significance not provided 2020-04-07 criteria provided, single submitter clinical testing Identified in a patient with retinitis pigmentosa in published literature who harbored a homozygous pathogenic variant in BBS2 which the authors considered to be causative (Watson et al., 2014); Identified in a patient with hearing loss in published literature; no specific details on the patient are provided (Iwasa et al., 2016); This variant is associated with the following publications: (PMID: 27911912, 25133751)
Revvity Omics, Revvity RCV000933794 SCV003817848 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276681 SCV001463189 likely benign Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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