ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) (rs869312181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171542 SCV001334327 uncertain significance Usher syndrome 2020-04-29 reviewed by expert panel curation The c.4115T>G (p.Val1372Gly) variant in MYO7A is absent from gnomAD (PM2). The REVEL computational prediction analysis tool produced a score of 0.869, which is above the threshold necessary to apply PP3. While this variant was reported with a second loss of function variant in MYO7A in an inherited retinal disease cohort that includes Usher syndrome patients, it was unclear whether the patient with these variants had Usher syndrome or if the variants were in trans (PM3 not met; PMID: 26872967, SCV000259091.1). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, PP3.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210299 SCV000259091 likely pathogenic Usher syndrome type 1 2015-01-30 no assertion criteria provided clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225646 SCV000282591 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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