ClinVar Miner

Submissions for variant NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter)

gnomAD frequency: 0.00004  dbSNP: rs200809908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730647 SCV000858398 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892627 SCV004714601 likely pathogenic SLC10A1-related disorder 2024-01-13 no assertion criteria provided clinical testing The SLC10A1 c.132C>A variant is predicted to result in premature protein termination (p.Cys44*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in SLC10A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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