ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile)

gnomAD frequency: 0.00003  dbSNP: rs141129222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003037104 SCV003194833 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003037105 SCV003632324 uncertain significance Inborn genetic diseases 2021-11-05 criteria provided, single submitter clinical testing The c.670G>A (p.V224I) alteration is located in exon 4 (coding exon 4) of the TFAP2B gene. This alteration results from a G to A substitution at nucleotide position 670, causing the valine (V) at amino acid position 224 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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