ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.92T>C (p.Val31Ala)

dbSNP: rs2146454210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV005001240 SCV005627460 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.92T>C (p.Val31Ala) is a missense variant which has a REVEL score < 0.50 (0.287) and a SpliceAI score ≤ 0.20 (Acceptor Loss 0.02, Donor Loss 0.01) (BP4). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002029960 SCV002109651 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 31 of the RUNX1 protein (p.Val31Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RUNX1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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