ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.1324G>C (p.Ala442Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055312 SCV005689285 uncertain significance Ataxia-pancytopenia syndrome 2024-08-03 criteria provided, single submitter clinical testing The SAMD9L c.1324G>C (p.Ala442Pro) missense change has a maximum subpopulation frequency of 0.002% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. In silico predictions have not been found to correlate with syndromic risk and are not considered supporting evidence of a pathogenic or benign effect (PMID: 34621053). This variant has not been reported in individuals with ataxia-pancytopenia syndrome or monosomy 7 myelodysplasia and leukemia syndrome. 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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