ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1332+9T>C

gnomAD frequency: 0.00003  dbSNP: rs775059899
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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 RCV001822660 SCV002071840 uncertain significance not specified 2021-08-31 criteria provided, single submitter clinical testing DNA sequence analysis of the ABCC8 gene demonstrated a sequence change in intron 8, c.1332+9T>C. This change does not appear to have been previously described in patients with ABCC8-related disorders and has been described in the gnomAD database in three heterozygous individuals which corresponds to a population frequency of 0.0012% (dbSNP rs775059899). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Labcorp Genetics (formerly Invitae), Labcorp RCV002074363 SCV002374187 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing

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