ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)

gnomAD frequency: 0.00003  dbSNP: rs201463616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810778 SCV002048274 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810778 SCV004269122 benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV005278890 SCV005941089 uncertain significance not specified 2024-12-23 criteria provided, single submitter clinical testing The c.5915C>A (p.T1972N) alteration is located in exon 43 (coding exon 43) of the SPTA1 gene. This alteration results from a C to A substitution at nucleotide position 5915, causing the threonine (T) at amino acid position 1972 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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