ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.994G>A (p.Asp332Asn)

gnomAD frequency: 0.00003  dbSNP: rs757030094
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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 RCV004719954 SCV005326442 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-18 reviewed by expert panel curation NM_001754.5(RUNX1):c.994G>A (p.Asp332Asn) is a missense variant. This variant has a MAF of 0.0009758 (0.09758%, 5/5124, 5124 alleles) in the East Asian subpopulation of the gnomAD cohort, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). This missense variant has a REVEL score < 0.50 (0.316) and a SpliceAI score ≤ 0.20 (0.0) (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, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000694695 SCV000823152 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958016 SCV005495319 benign Inborn genetic diseases 2024-06-28 criteria provided, single submitter clinical testing This alteration is classified as 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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