ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.666C>T (p.Ser222=)

gnomAD frequency: 0.00002  dbSNP: rs747906151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV003411833 SCV004123206 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.666C>T (p.Ser222=) is a synonymous variant. This variant has been seen 11x in gnomADv2.1 with a MAF of 0.00026 (0.026%, 8/30616 in the South Asian sub-population (BS1). REVEL score not applicable and SpliceAI <=0.20 (BP4). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1 and BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000861133 SCV001001361 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-10-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256560 SCV002535875 likely benign Hereditary cancer-predisposing syndrome 2021-08-02 criteria provided, single submitter curation
Ambry Genetics RCV004958191 SCV005495331 likely benign Inborn genetic diseases 2024-11-21 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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