ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) (rs539192853)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492984 SCV000581721 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing The A4740D variant in the USH2A gene has been reported previously in an individual with Usher syndrome who also had the G1555C variant in the USH2A gene, however, parental studies were not performed to determine the phase of these variants (Licastro et al., 2012). The A4740D variant was also reported in an individual with retinitis pigmentosa who had A4740D in cis with L2301S as well as a nonsense variant in trans in the USH2A gene (Glockle et al., 2013). The A4740D variant is observed in 10/126,468 (0.0079%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The A4740D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret A4740D as a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000492984 SCV000780322 likely pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787725 SCV000926725 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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