ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)

gnomAD frequency: 0.00045  dbSNP: rs200714808
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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 RCV001000901 SCV001157984 uncertain significance not specified 2018-11-15 criteria provided, single submitter clinical testing The SPTA1 c.3742C>T; Arg1248Trp variant (rs200714808), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found predominantly in the African population with an overall allele frequency of 0.17% (41/24182 alleles, including no homozygotes) in the Genome Aggregation Database. The arginine at codon 1248 is highly conserved but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869423 SCV002149174 benign not provided 2022-08-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001869423 SCV003820105 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001869423 SCV003840594 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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