ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.758A>G (p.His253Arg)

gnomAD frequency: 0.00027  dbSNP: rs375200566
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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 RCV000156478 SCV000206197 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The His253Arg variant in MYO7A has not been previously reported in individuals w ith hearing loss, but has been identified in 0.05% (2/3912) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out pathogenicity. Computational prediction tools and conservation analyses do not provide strong support for or against an impac t to the protein. In summary, additional information is needed to determine the clinical significance of this variant.
GeneDx RCV001571850 SCV001796394 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV001571850 SCV003268157 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515021 SCV003655334 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.758A>G (p.H253R) alteration is located in exon 8 (coding exon 7) of the MYO7A gene. This alteration results from a A to G substitution at nucleotide position 758, causing the histidine (H) at amino acid position 253 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826852 SCV002093133 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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