ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)

dbSNP: rs2480788504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337781 SCV004048057 likely pathogenic Sotos syndrome criteria provided, single submitter clinical testing The frame shift c.5972_5973dup (p.Asp1992MetfsTer11) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp1992MetfsTer11 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Aspartic Acid 1992, changes this amino acid to Methionine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Asp1992MetfsTer11. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic

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