ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.1304A>C (p.Asn435Thr)

gnomAD frequency: 0.00078  dbSNP: rs115226995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971525 SCV001119180 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524494 SCV003722535 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.1304A>C (p.N435T) alteration is located in exon 7 (coding exon 7) of the TFAP2B gene. This alteration results from a A to C substitution at nucleotide position 1304, causing the asparagine (N) at amino acid position 435 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003932473 SCV004750235 likely benign TFAP2B-related condition 2022-11-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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