ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10510C>G (p.Pro3504Ala) (rs200372118)

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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 RCV000155325 SCV000205011 benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.Pro3504Ala in Exon 53 of USH2A: This variant has been reported as a `likely ne utral? variant in an Usher syndrome study based on either its presence in an aff ected individual who carried two other causative variants or because it did not segregate with disease (Le Quesne Stabej 2012). It was also identified in 1/878 (0.12%) control chromosomes by the same study (Le Quesne Stabej 2012), and in 1. 1% (348/30782) of South Asian chromosomes including 8 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; rs200372118). Th e proline (Pro) residue at position 3504 is not conserved in several species mam mals, with rat and mouse having an alanine (Ala), and computational tools (amino acid biochemical properties, SIFT, PolyPhen-2, AlignGVGD) do not suggest an imp act to the protein. In summary, this variant is not expected to have clinical si gnificance based on the conservation and computational data, and its presence in the general population.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155325 SCV000702335 benign not specified 2016-10-24 criteria provided, single submitter clinical testing

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