ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) (rs397517987)

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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 RCV000041748 SCV000065444 likely benign not specified 2012-05-15 criteria provided, single submitter clinical testing The Gln4676Arg variant (USH2A) has not been reported in the literature nor previ ously identified by our laboratory. However, computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not suggest a h igh likelihood of impact to the protein. Of note, chicken and frogs have Arginin e (Arg) at this position. In summary, the lack of conservation suggests that thi s variant is likely benign.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627015 SCV000747718 uncertain significance Joubert syndrome; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 2017-01-01 criteria provided, single submitter clinical testing

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