ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)

dbSNP: rs1856229182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001265542 SCV001443692 likely pathogenic Intellectual disability, autosomal dominant 51 2019-12-19 criteria provided, single submitter clinical testing This frameshifting variant in exon 5 of 11 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.431_432del (p.Phe144Ter) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.431_432del (p.Phe144Ter) variant is classified as Likely Pathogenic.

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