ClinVar Miner

Submissions for variant NM_004727.3(SLC24A1):c.172C>T (p.Gln58Ter)

gnomAD frequency: 0.00001  dbSNP: rs1289546006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236566 SCV001409294 pathogenic not provided 2022-03-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 962672). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC24A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln58*) in the SLC24A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC24A1 are known to be pathogenic (PMID: 20850105, 26822852).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001236566 SCV001905651 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing

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