ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs)

dbSNP: rs886042011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000287226 SCV000330840 pathogenic not provided 2016-09-22 criteria provided, single submitter clinical testing The c.3099_3105dupTTGCAAT pathogenic variant in the SALL1 gene causes a frameshift starting with codon Arginine 1036, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Arg1036LeufsX10. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.3099_3105dupTTGCAAT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This pathogenic variant has not been previously reported to our knowledge.

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