ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)

gnomAD frequency: 0.00016  dbSNP: rs142617606
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155323 SCV000205009 uncertain significance not specified 2017-02-21 criteria provided, single submitter clinical testing The p.Glu3912Lys variant in USH2A has not been previously reported in individual s with hearing loss, but has been identified in 20/124246 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs142617606). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the p.G lu3912Lys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001473378 SCV001677531 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001473378 SCV002104484 uncertain significance not provided 2024-04-03 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
Ambry Genetics RCV002514994 SCV003689403 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.11734G>A (p.E3912K) alteration is located in exon 61 (coding exon 60) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 11734, causing the glutamic acid (E) at amino acid position 3912 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271132 SCV001451984 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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