ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.1193_1194insTAAACCTCTCCTATGAGA (p.Leu398_Val399insLysProLeuLeuTer)

dbSNP: rs1792339875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768304 SCV002008853 uncertain significance not provided 2020-03-31 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004536303 SCV004109591 uncertain significance SAMD9L-related disorder 2023-09-12 criteria provided, single submitter clinical testing The SAMD9L c.1193_1194insTAAACCTCTCCTATGAGA variant is predicted to result in an in-frame amino acid insertion (p.Leu398_Val399insLysProLeuLeu*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare, and is listed in ClinVar as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/1318680/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055173 SCV005689284 uncertain significance Ataxia-pancytopenia syndrome 2024-07-16 criteria provided, single submitter clinical testing The SAMD9L c.1193_1194insTAAACCTCTCCTATGAGA (p.Leu398_Val399insLysProLeuLeuTer) change inserts 18 nucleotides that results in the creation of a premature stop codon. The functional significance of this variant is currently unknown. This variant has not been reported in individuals with ataxia-pancytopenia syndrome or monosomy 7. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.?

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