ClinVar Miner

Submissions for variant NM_001350562.2(TJAP1):c.268A>G (p.Lys90Glu)

gnomAD frequency: 0.00001  dbSNP: rs1213051446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004109158 SCV003578360 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.268A>G (p.K90E) alteration is located in exon 6 (coding exon 3) of the TJAP1 gene. This alteration results from a A to G substitution at nucleotide position 268, causing the lysine (K) at amino acid position 90 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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