ClinVar Miner

Submissions for variant NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)

dbSNP: rs141269120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594151 SCV000708184 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000594151 SCV002063136 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing SLC10A1: PM2, PM5, PP4
Mayo Clinic Laboratories, Mayo Clinic RCV000594151 SCV004226674 likely pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing PM2, PM5, PS3
PreventionGenetics, part of Exact Sciences RCV004748847 SCV005349339 uncertain significance SLC10A1-related disorder 2024-08-20 no assertion criteria provided clinical testing The SLC10A1 c.754C>A variant is predicted to result in the amino acid substitution p.Arg252Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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