ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.624+1G>C

dbSNP: rs113993997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818170 SCV002067345 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing DNA sequence analysis of the SBDS gene demonstrated a sequence change in the canonical splice donor site of intron 4, c.624+1G>C. This sequence change has been previously described in compound heterozygous state with the c.258+2T>C pathogenic sequence change in a patient with an atypical Schwachman-Bodian-Diamond syndrome phenotype, with low neutrophil count and mild to moderate thrombocytopenia but no apparent extrahaematological features of SBDS (PMID 21659346). The c.624+1G>C sequence change is absent from large population databases such as ExAC and gnomAD. This pathogenic sequence change is predicted to affect normal splicing of the SBDS gene and result in an abnormal protein.
GeneReviews RCV000020732 SCV000041307 not provided Shwachman-Diamond syndrome 1 no assertion provided literature only

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