ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)

gnomAD frequency: 0.00001  dbSNP: rs370260585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970565 SCV001118152 likely benign MHC class I deficiency 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000970565 SCV002796265 likely benign MHC class I deficiency 2022-01-13 criteria provided, single submitter clinical testing
GeneDx RCV003442135 SCV004169433 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing Has not been previously reported as a pathogenic or benign germline variant to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Liu2020[CaseReport])
PreventionGenetics, part of Exact Sciences RCV003928489 SCV004742455 benign TAP2-related disorder 2019-02-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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