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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421377 SCV000513834 uncertain significance not provided 2024-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21738395, 16963483, 20613545)
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a variant affecting the remaining copy of MYO7A was not identified (Cremers 2007, Kimberling 2010, Vozzi 2011, LMM Unpublished data).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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000421377 SCV001541607 likely benign not provided 2024-10-30 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
PreventionGenetics, part of Exact Sciences RCV004735507 SCV005362040 uncertain significance MYO7A-related disorder 2024-09-26 no assertion criteria provided clinical testing The MYO7A c.4018G>A variant is predicted to result in the amino acid substitution p.Ala1340Thr. This variant has been reported in the heterozygous state in three individuals with deafness or Usher syndrome, although one of these individuals was also heterozygous for a truncating variant in another Usher syndrome related gene (Kimberling et al. 2010. PubMed ID: 20613545; Vozzi et al. 2011. PubMed ID: 21738395; Cremers et al. 2006. PubMed ID: 16963483). This variant is reported in 0.14% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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