ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)

gnomAD frequency: 0.00003  dbSNP: rs782726270
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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 RCV001195387 SCV001365736 uncertain significance not specified 2019-07-31 criteria provided, single submitter clinical testing The p.Ala886Thr variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.008% (3/35280) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses 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: PM2_Supporting.
Invitae RCV001419885 SCV001622152 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001419885 SCV001875306 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561035 SCV003709135 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2656G>A (p.A886T) alteration is located in exon 22 (coding exon 21) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 2656, causing the alanine (A) at amino acid position 886 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279407 SCV001466502 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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