ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) (rs782350886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171528 SCV001334313 uncertain significance Usher syndrome 2020-03-18 reviewed by expert panel curation The c.3491G>A (p.Arg1164Gln) variant in MYO7A was present in 0.003519% (1/28416) of South Asian chromosomes in gnomAD, which is a low enough frequency to apply PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2). This variant was observed in 1 proband with hearing loss and retinitis pigmentosa and another pathogenic variant in MYO7A in trans (PM3; LMM internal data, SCV000272160.2). However, this individual presented with another possible genetic explanation of retinitis pigmentosa (PP4 not met). The REVEL computational prediction analysis tool produced a score of 0.94, which is above the threshold necessary to apply PP3. In summary, the clinical significance of this variant is uncertain based on ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel (PM2, PM3, PP3).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218120 SCV000272160 uncertain significance not specified 2019-04-30 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626210 SCV000746854 uncertain significance MYO7A-Related Disorders 2020-05-03 criteria provided, single submitter clinical testing
Counsyl RCV000667161 SCV000791568 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-05-12 criteria provided, single submitter clinical testing

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