ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)

gnomAD frequency: 0.00008  dbSNP: rs372966682
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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, Mass General Brigham Personalized Medicine RCV000041751 SCV000065447 uncertain significance not specified 2011-03-01 criteria provided, single submitter clinical testing The Glu4701Lys variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. However, it should be noted that frog and zebra fish have a lysine at this position. In addition, this lab has only sequenced th e USH2A in 259 individuals such that the full spectrum of benign variation has n ot yet been defined for this gene, increasing the possibility that this may be a benign variant. In summary, the clinical significance of this variant cannot be determined with certainty at this time; however based upon the arguments descri bed above, we would lean towards a more likely benign role.
Invitae RCV001245454 SCV001418744 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376435 SCV001573573 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.14101G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Natera, Inc. RCV001272937 SCV001455388 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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