ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.219C>T (p.Ser73=)

dbSNP: rs1157495777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001195649 SCV001366045 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-04-10 reviewed by expert panel curation This synonymous variant is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created; in addition, evolutionary conservation prediction algorithms predict the site as not being highly conserved (PhyloP score 0.04 < 0.1[-14.1;6.4]) (BP4+BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4 and BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000639535 SCV000761110 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004957930 SCV005495369 likely benign Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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