ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.802C>T (p.Arg268Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003421401 SCV004145873 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364549 SCV004960797 uncertain significance Inborn genetic diseases 2023-12-26 criteria provided, single submitter clinical testing The c.580C>T (p.R194C) alteration is located in exon 6 (coding exon 6) of the TANC2 gene. This alteration results from a C to T substitution at nucleotide position 580, causing the arginine (R) at amino acid position 194 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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