ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)

gnomAD frequency: 0.00004  dbSNP: rs367841692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508357 SCV001714469 likely pathogenic not provided 2021-01-26 criteria provided, single submitter clinical testing PS3, PM1, PP1, PP3
Baylor Genetics RCV003333161 SCV004040949 likely pathogenic Hereditary spherocytosis type 2 2023-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399263 SCV004118880 uncertain significance SPTB-related disorder 2023-01-13 criteria provided, single submitter clinical testing The SPTB c.6068C>T variant is predicted to result in the amino acid substitution p.Ala2023Val. This variant been previously reported in the heterozygous state in individuals with hereditary elliptocytosis (reported as Ala2023Val, family CO in Parquet et al. 1994. PubMed ID: 8018926; Park et al. 2016. PubMed ID: 26830532). This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-65234532-G-A). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Revvity Omics, Revvity RCV001508357 SCV004237735 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing

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