ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)

dbSNP: rs878855336
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556291 SCV004294514 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 880 of the SAMD9L protein (p.His880Gln). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SAMD9L protein function. ClinVar contains an entry for this variant (Variation ID: 242372). This missense change has been observed in individual(s) with ataxia-pancytopenia syndrome (PMID: 27259050, 30046003). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000234838 SCV000292027 pathogenic Ataxia-pancytopenia syndrome 2020-12-10 no assertion criteria provided literature only
GeneReviews RCV000234838 SCV000611899 not provided Ataxia-pancytopenia syndrome no assertion provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000234838 SCV000882877 likely pathogenic Ataxia-pancytopenia syndrome 2016-06-06 no assertion criteria provided research
OMIM RCV001270307 SCV001450515 pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 1 2020-12-10 no assertion criteria provided literature only

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