ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.585G>A (p.Lys195=)

gnomAD frequency: 0.00240  dbSNP: rs144945655
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000968657 SCV000517343 likely benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000968657 SCV001116127 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999388 SCV001144602 benign not specified 2024-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968657 SCV005227716 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003902501 SCV004720398 benign MTPAP-related disorder 2019-06-27 no assertion criteria provided 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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