ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.140T>A (p.Leu47Gln)

dbSNP: rs770530237
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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 RCV004695186 SCV005196446 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-12 reviewed by expert panel curation NM_001754.5(RUNX1):c.140T>A (p.Leu47Gln) is a missense variant which does not meet any ACMG/AMP criteria. 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: None.
Labcorp Genetics (formerly Invitae), Labcorp RCV001213519 SCV001385154 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-07-12 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 47 of the RUNX1 protein (p.Leu47Gln). This variant is present in population databases (rs770530237, gnomAD 0.0009%). 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: 943347). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Ambry Genetics RCV002561816 SCV003745423 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.140T>A (p.L47Q) alteration is located in exon 4 (coding exon 3) of the RUNX1 gene. This alteration results from a T to A substitution at nucleotide position 140, causing the leucine (L) at amino acid position 47 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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