ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.1396A>T (p.Met466Leu) (rs762213305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000718 SCV000638128 likely benign Familial platelet disorder with associated myeloid malignancy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000718 SCV001157763 uncertain significance Familial platelet disorder with associated myeloid malignancy 2018-09-19 criteria provided, single submitter clinical testing The RUNX1 c.1396A>T; p.Met466Leu variant (rs762213305), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 463982). This variant is found in the East Asian population with an allele frequency of 0.19% (23/12,256 alleles) in the Genome Aggregation Database. The methionine at codon 466 is moderately conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Met466Leu variant is uncertain at this time.

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