ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6142T>G (p.Phe2048Val)

dbSNP: rs1950472916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095739 SCV001251580 uncertain significance Wiedemann-Steiner syndrome 2020-01-22 criteria provided, single submitter clinical testing The KMT2A c.6142T>G (p.Phe2048Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Phe2048Val variant is classified as a variant of unknown significance for Wiedemann-Steiner syndrome.

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