ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)

gnomAD frequency: 0.00035  dbSNP: rs148340413
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179445 SCV000231694 likely benign not specified 2018-08-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000779586 SCV000916269 uncertain significance Autosomal recessive Robinow syndrome 2017-04-28 criteria provided, single submitter clinical testing The ROR2 c.730C>T (p.Arg244Trp) variant has been reported in one patient in a homozygous state (Ali et al. 2007). The variant was absent from 50 ethnically matched controls but is reported at a frequency of 0.00409 in the South Asian population in the 1000 Genomes Project. Functional studies using transfected HeLa cells demonstrated that the variant protein localized to the endoplasmic reticulum while the wild type protein localized in the plasma membrane (Ali et al. 2007). Based on the evidence, the p.Arg244Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for Robinow syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Laboratory Services, Illumina RCV001166901 SCV001329323 benign Brachydactyly type B1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001511051 SCV001718232 benign not provided 2022-08-15 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000779586 SCV001984310 likely benign Autosomal recessive Robinow syndrome 2019-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001511051 SCV005051349 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ROR2: BS2

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