ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.843_846del (p.His282fs)

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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 RCV003728373 SCV004522663 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His282Serfs*10) in the MCPH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCPH1 are known to be pathogenic (PMID: 20978018). This variant is present in population databases (rs758936956, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MCPH1-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003728373 SCV005078420 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign in association with a MCPH1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 31980526)

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