ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)

gnomAD frequency: 0.00026  dbSNP: rs373147966
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171544 SCV001334330 uncertain significance Usher syndrome 2020-05-20 reviewed by expert panel curation The c.3527G>A (p.Ser1176Asn) variant in MYO7A was present in 0.057% (lower bound of the 95% CI of 33/42036) of African alleles in gnomAD v3 (BS1_Supporting not met). It has been observed in at least 3 individuals with Usher syndrome type 1. However, in one proband the p.Ser1176Asn variant was observed in cis with another pathogenic/likely pathogenic variant in MYO7A (BP2; PMID: 26969326). The remaining probands did not have other pathogenic or likely pathogenic variants in MYO7A identified (PM3 and PP4 not met; PMID: 27344577, 27460420, 31479088). 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, as specified by the Hearing Loss Expert Panel: BP2.
Eurofins Ntd Llc (ga) RCV000724054 SCV000228596 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000724054 SCV000714448 likely benign not provided 2020-08-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326, 31479088, 27460420, 27344577, 33297549)
Counsyl RCV000665185 SCV000789259 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-01-20 criteria provided, single submitter clinical testing
Mendelics RCV000988610 SCV001138389 uncertain significance Usher syndrome type 1 2023-04-21 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073919 SCV001239484 uncertain significance Retinal dystrophy 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV000724054 SCV001418817 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500491 SCV002791084 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2022-03-18 criteria provided, single submitter clinical testing

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