ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1406_1408del (p.His469del)

dbSNP: rs775280006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508920 SCV001715357 likely pathogenic not provided 2021-05-11 criteria provided, single submitter clinical testing PS4_moderate, PM1, PM2, PM4, PP1
Invitae RCV001508920 SCV003523255 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing This variant, c.1406_1408del, results in the deletion of 1 amino acid(s) of the SPTA1 protein (p.His469del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775280006, gnomAD 0.02%). This variant has been observed in individual(s) with SPTA1-related conditions (PMID: 8400271, 27667160). ClinVar contains an entry for this variant (Variation ID: 1163665). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity Omics RCV001508920 SCV003820089 likely pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing

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