ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)

gnomAD frequency: 0.00004  dbSNP: rs376291076
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421377 SCV000513834 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20613545, 21738395, 16963483)
Counsyl RCV000665055 SCV000789114 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825981 SCV000967469 uncertain significance not specified 2020-02-28 criteria provided, single submitter clinical testing The p.Ala1340Thr variant in MYO7A has been previously reported in at least 3 individuals with hearing loss or Usher syndrome, however a variant affecting the remaining copy of MYO7A was not identified (Cremers 2007, Kimberling 2010, Vozzi 2011, LMM Unpublished data). This variant has also been identified in 0.13% (14/10342) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BS1_Supporting.
Invitae RCV000421377 SCV001541607 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273495 SCV001456606 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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