ClinVar Miner

Submissions for variant NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)

gnomAD frequency: 0.00031  dbSNP: rs201025468
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788551 SCV000927703 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068546 SCV002404417 benign 3MC syndrome 1 2024-02-26 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002068546 SCV003920180 uncertain significance 3MC syndrome 1 2021-12-08 criteria provided, single submitter clinical testing MASP1 NM_139125.3 exon 11 p.Arg503Cys (c.1507C>T): This variant has not been reported in the literature but is present in 0.6% (69/10366) of Ashkenazi Jewish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3-186954152-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:636655). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000788551 SCV001797682 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000788551 SCV001974911 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965584 SCV004778323 likely benign MASP1-related disorder 2022-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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