ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1350+1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002284350 SCV002573783 likely pathogenic not provided 2021-06-25 criteria provided, single submitter clinical testing PVS1_strong, PM2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002284350 SCV004564350 pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing The SPTA1 c.1350+1G>C variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1705976). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 10, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic.

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