ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)

gnomAD frequency: 0.00002  dbSNP: rs929328527
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509080 SCV001471251 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509080 SCV001715601 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509080 SCV002953133 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035525 SCV003597557 uncertain significance not specified 2022-01-05 criteria provided, single submitter clinical testing The c.1124T>C (p.F375S) alteration is located in exon 9 (coding exon 9) of the SPTA1 gene. This alteration results from a T to C substitution at nucleotide position 1124, causing the phenylalanine (F) at amino acid position 375 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001509080 SCV003822611 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing

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