ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) (rs142652588)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155310 SCV000204996 uncertain significance not specified 2013-12-15 criteria provided, single submitter clinical testing The Gly807Ser variant in USH1C has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (3/8586) of European American chromosomes by the NHLBI Exome Sequencing Project ( /EVS/; dbSNP rs142652588). Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. In summary, additional data is neede d to determine the clinical significance of this variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791090 SCV000930361 uncertain significance Usher syndrome, type 1C 2019-04-27 criteria provided, single submitter clinical testing
GeneDx RCV001545234 SCV001764522 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000791090 SCV001462399 uncertain significance Usher syndrome, type 1C 2020-04-11 no assertion criteria provided clinical testing

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