ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004552617 SCV004116393 uncertain significance SPTA1-related disorder 2022-12-09 criteria provided, single submitter clinical testing The SPTA1 c.2216G>A variant is predicted to result in the amino acid substitution p.Arg739His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.054% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-158636110-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Revvity Omics, Revvity RCV003491384 SCV004237672 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003491384 SCV004515046 benign not provided 2023-07-28 criteria provided, single submitter clinical testing

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