ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.2951A>G (p.Asn984Ser)

gnomAD frequency: 0.00001  dbSNP: rs1370792562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784147 SCV002025678 uncertain significance See cases 2020-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040813 SCV004960778 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.2729A>G (p.N910S) alteration is located in exon 15 (coding exon 15) of the TANC2 gene. This alteration results from a A to G substitution at nucleotide position 2729, causing the asparagine (N) at amino acid position 910 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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