ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2655+2_2655+3del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV002282752 SCV002570252 uncertain significance Hereditary spherocytosis type 4 2022-05-16 criteria provided, single submitter clinical testing This SLC4A1 variant is absent from a large population dataset. Bioinformatic analysis predicts that this 2-bp intronic deletion would affect the splice donor site of exon 19, although this has not been confirmed experimentally to our knowledge. This variant has been reported in the literature for a single individual with hereditary spherocytosis, but functional studies were not available to access any impact on mRNA splicing. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.2655+2_2655+3del to be uncertain at this time
Mayo Clinic Laboratories, Mayo Clinic RCV002284232 SCV002573760 likely pathogenic not provided 2021-09-21 criteria provided, single submitter clinical testing PM2, PVS1
Revvity Omics, Revvity RCV002284232 SCV004238684 likely pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing

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