ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.630A>G (p.Leu210=)

gnomAD frequency: 0.00002  dbSNP: rs367978995
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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 RCV002264712 SCV002546364 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-07-07 reviewed by expert panel curation This c.630A>G (p.Leu210=) synonymous variant is not predicted to have any splicing impact per SpliceAI (BP4), but it is located at a moderately conserved nucleotide per an evolutionary conservation prediction algorithm (PhyloP score = 2.5748 in GRCh38). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000537149 SCV000638150 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955627 SCV005495300 likely benign Inborn genetic diseases 2024-11-26 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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