ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)

gnomAD frequency: 0.00010  dbSNP: rs150060240
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000487893 SCV000339676 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487893 SCV000574817 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000487893 SCV000618626 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The N2514S variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N2514S variant is observed in 8/16,508 (0.048%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The N2514S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N2514S as a variant of uncertain significance.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196427 SCV001367035 uncertain significance Usher syndrome type 2A 2019-11-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM1,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV000487893 SCV001663409 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001196427 SCV001453606 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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