ClinVar Miner

Submissions for variant NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)

gnomAD frequency: 0.00004  dbSNP: rs752341132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821651 SCV000962420 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln533*) in the MED17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MED17 are known to be pathogenic (PMID: 20950787, 26004231, 30345598). This variant is present in population databases (rs752341132, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MED17-related conditions. ClinVar contains an entry for this variant (Variation ID: 663716). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV001809841 SCV002059532 likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2020-05-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001809841 SCV003810923 uncertain significance Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2019-04-23 criteria provided, single submitter clinical testing

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