ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)

gnomAD frequency: 0.00084  dbSNP: rs140080678
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723740 SCV000203775 uncertain significance not provided 2014-04-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155329 SCV000205015 likely benign not specified 2013-06-13 criteria provided, single submitter clinical testing Asn1683Ser in Exon 25 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (14/4392) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs140080678) and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Invitae RCV000723740 SCV001074525 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000723740 SCV001778587 uncertain significance not provided 2021-04-13 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
Natera, Inc. RCV001273050 SCV001455636 likely benign Usher syndrome type 2A 2020-04-30 no assertion criteria provided clinical testing

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