ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1690C>T (p.Arg564Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004303728 SCV003965157 uncertain significance not specified 2023-03-20 criteria provided, single submitter clinical testing The c.1690C>T (p.R564W) alteration is located in exon 14 (coding exon 14) of the SPTA1 gene. This alteration results from a C to T substitution at nucleotide position 1690, causing the arginine (R) at amino acid position 564 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989828 SCV004807036 uncertain significance Elliptocytosis 2 2024-03-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790523 SCV005408180 uncertain significance not provided 2024-02-28 criteria provided, single submitter clinical testing

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