ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)

gnomAD frequency: 0.00049  dbSNP: rs201601992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001507477 SCV001471989 uncertain significance not provided 2024-08-23 criteria provided, single submitter clinical testing The SPTA1 c.4711T>G; p.Cys1571Gly variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 993702). This variant is found predominantly in the African/African-American population with an allele frequency of 0.1% (32/24198 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.394). Due to limited information, the clinical significance of this variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV001507477 SCV001713064 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001507477 SCV003822620 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507477 SCV004301583 benign not provided 2023-12-07 criteria provided, single submitter clinical testing

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