ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5932C>T (p.Pro1978Ser) (rs75698489)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155407 SCV000340857 likely benign not specified 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000657074 SCV000617261 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing The P1978S variant in the USH2A gene has been reported previously in the heterozygous state in an individual with autosomal recessive retinitis pigmentosa, however, it is unknown if this individual harbored a second USH2A variant as limited information was provided in the report (McGee et al., 2010). The P1978S variant is observed in 149/24,026 (0.62%) alleles from individuals of African background, with no homozygous control individuals reported, in large population cohorts (Lek et al., 2016). The P1978S 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 analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. We interpret P1978S as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155407 SCV000205094 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro1978Ser in Exon 30 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (20/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs75698489).

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