ClinVar Miner

Submissions for variant NM_001330239.4(TJP1):c.3229C>A (p.Arg1077Ser)

dbSNP: rs201899316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943867 SCV001089824 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029748 SCV003583122 uncertain significance not specified 2021-10-21 criteria provided, single submitter clinical testing The c.3229C>A (p.R1077S) alteration is located in exon 21 (coding exon 21) of the TJP1 gene. This alteration results from a C to A substitution at nucleotide position 3229, causing the arginine (R) at amino acid position 1077 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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