ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn)

dbSNP: rs201715157
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610984 SCV000729675 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757705 SCV000886030 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing The p.Ile189Asn variant (rs201715157) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.1 percent (identified on 287 out of 246,254 chromosomes). The isoleucine at position 189 is weakly conserved considering 12 species (Alamut v2.10) and computational analyses of the p.Ile189Asn variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2:benign). Altogether, there is not enough evidence to classify the p.Ile189Asn variant with certainty.
Invitae RCV001089279 SCV001013817 benign Immunodeficiency 104 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000757705 SCV004125218 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing PTPRC: BS1
PreventionGenetics, part of Exact Sciences RCV003905649 SCV004723582 likely benign PTPRC-related condition 2020-03-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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