ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)

gnomAD frequency: 0.00020  dbSNP: rs200372118
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Eurofins Ntd Llc (ga) RCV000155325 SCV000702335 benign not specified 2016-10-24 criteria provided, single submitter clinical testing
Invitae RCV000911992 SCV001057076 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000986522 SCV001135537 benign Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000911992 SCV001833774 benign not provided 2019-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135276, 28281779, 25999674)
CeGaT Center for Human Genetics Tuebingen RCV000911992 SCV004125600 benign not provided 2023-02-01 criteria provided, single submitter clinical testing USH2A: BP4, BS1, BS2
Genome-Nilou Lab RCV003453168 SCV004182552 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986522 SCV004182554 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986522 SCV001459536 benign Usher syndrome type 2A 2019-12-16 no assertion criteria provided clinical testing

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