ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003481541 SCV004224693 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003481541 SCV004261355 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003481541 SCV004562287 uncertain significance not provided 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364833 SCV004955573 uncertain significance not specified 2024-02-26 criteria provided, single submitter clinical testing The c.401A>G (p.E134G) alteration is located in exon 4 (coding exon 4) of the SPTA1 gene. This alteration results from a A to G substitution at nucleotide position 401, causing the glutamic acid (E) at amino acid position 134 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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