ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.297_300del (p.Glu99fs)

dbSNP: rs113993994
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558258 SCV001780167 pathogenic not provided 2024-08-26 criteria provided, single submitter clinical testing Observed with a second SBDS variant in two other unrelated families in published literature (PMID: 15701631); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Also known as c.292_295delAAAG; This variant is associated with the following publications: (PMID: 15701631, 15942154)
Fulgent Genetics, Fulgent Genetics RCV002482895 SCV002792939 pathogenic Shwachman-Diamond syndrome 1; Aplastic anemia 2022-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473117 SCV004202352 pathogenic Aplastic anemia 2022-07-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020729 SCV000041304 not provided Shwachman-Diamond syndrome 1 no assertion provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001558258 SCV001957628 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001558258 SCV001973563 pathogenic not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003904855 SCV004721628 pathogenic SBDS-related disorder 2024-01-24 no assertion criteria provided clinical testing The SBDS c.297_300delAAGA variant is predicted to result in a frameshift and premature protein termination (p.Glu99Aspfs*21). This variant has been reported to be causative for Shwachman-Diamond Syndrome (Shammas et al. 2005. PubMed ID: 15701631, reported as 292_295delAAAG). This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. Frameshift variants in SBDS are expected to be pathogenic. This variant is interpreted as pathogenic.

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