ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.4547dup (p.Asn1516fs)

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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 RCV004785738 SCV005400729 uncertain significance Ataxia-pancytopenia syndrome 2023-06-22 criteria provided, single submitter clinical testing The frameshift c.4547dup (p.Asn1516LysfsTer2) variant in the SAMD9L has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.001%) in the gnomAD Exomes. This variant causes a frameshift starting with codon Asparagine 1516, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Asn1516LysfsTer2. 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. The variant is in the last exon, hence further studies are required to prove the pathogenicity of the variant. For these reasons, this variant has been classified as Uncertain Significance.

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