ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) (rs397518034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041919 SCV000065615 uncertain significance not specified 2010-09-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly2707Glu vari ant in USH2A has not been reported in the literature. We have identified it in o ne Hispanic patient without a variant on the second USH2A allele and who also ha d a single pathogenic GJB2 mutation. The Gly270 residue is conserved across spec ies and computational analyses (PolyPhen, SIFT, AlignGVGD) suggest that the Gly2 707Glu variant may impact the protein. However, this information is not predicti ve enough to assume pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time.
Counsyl RCV000666401 SCV000790687 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-04 criteria provided, single submitter clinical testing

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