ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)

gnomAD frequency: 0.00004  dbSNP: rs374596700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782427 SCV002022772 likely pathogenic Microcephaly 1, primary, autosomal recessive 2019-12-23 criteria provided, single submitter clinical testing
3billion RCV001782427 SCV002520992 pathogenic Microcephaly 1, primary, autosomal recessive 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.005%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772153 SCV004626951 likely benign not provided 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001782427 SCV005677262 likely pathogenic Microcephaly 1, primary, autosomal recessive 2024-06-05 criteria provided, single submitter clinical testing

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