ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)

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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 RCV002898897 SCV003236212 pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPTA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2107*) in the SPTA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTA1 are known to be pathogenic (PMID: 9192783, 18815189, 31333484, 31723846, 32266426).
Revvity Omics, Revvity RCV002898897 SCV003808913 likely pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing

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