ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.142G>A (p.Val48Met)

dbSNP: rs769217430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734405 SCV000862544 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678812 SCV005176249 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.142G>A (p.V48M) alteration is located in exon 3 (coding exon 3) of the TJP2 gene. This alteration results from a G to A substitution at nucleotide position 142, causing the valine (V) at amino acid position 48 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000734405 SCV005410717 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing

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