ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)

gnomAD frequency: 0.00067  dbSNP: rs201261159
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146271 SCV000193536 uncertain significance Microcephaly 1, primary, autosomal recessive 2013-11-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000279928 SCV000331628 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000146271 SCV000897466 uncertain significance Microcephaly 1, primary, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000279928 SCV001873885 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing Reported in trans with the c.928G>A (p.V310I) variant in two siblings with primary microcephaly (Naseer et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30351297, 32714618, 31258591)
Labcorp Genetics (formerly Invitae), Labcorp RCV000279928 SCV002127761 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000279928 SCV005195773 uncertain significance not provided criteria provided, single submitter not provided

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