ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.560C>T (p.Pro187Leu)

gnomAD frequency: 0.00003  dbSNP: rs746128411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821221 SCV000961972 likely benign Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2025-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001544585 SCV001763742 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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