ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala)

dbSNP: rs2145871712
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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 RCV004692628 SCV005196493 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-17 reviewed by expert panel curation NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala) is not present in the gnomAD database (PM2_supporting). No other evidence is available. 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: PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001360512 SCV001556433 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-07-06 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 476 of the RUNX1 protein (p.Val476Ala). 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. ClinVar contains an entry for this variant (Variation ID: 1052351). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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