ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)

gnomAD frequency: 0.00001  dbSNP: rs774976459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484843 SCV000565517 likely pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 17350924, 17046571, 34758064, 17916435, 21536732)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000484843 SCV001446842 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002063697 SCV002495944 uncertain significance Shwachman-Diamond syndrome 1; Aplastic anemia 2021-08-16 criteria provided, single submitter clinical testing SBDS NM_016038.2 exon 4 p.Arg175Trp (c.523C>T): This variant has been reported in the literature in 1 individual with Schwachman-Diamond Syndrome who also carried an additional variant in the same gene (Erdos 2007 PMID:17350924). It is present in 0.001% (1/68032) European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-66991238-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:418467). A nuclear magnetic resonance (NMR) spectroscopy study of the mutant protein suggests that this variant alters the protein's structural and chemical properties (Finch 2011 PMID:21536732). However, this may not result in an impact to in vivo biological function. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Baylor Genetics RCV003476153 SCV004202351 likely pathogenic Aplastic anemia 2024-02-15 criteria provided, single submitter clinical testing

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