ClinVar Miner

Submissions for variant NM_001137601.3(ZBTB42):c.1088C>G (p.Thr363Arg)

dbSNP: rs577534064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333823 SCV001526508 uncertain significance Lethal congenital contracture syndrome 6 2018-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035769 SCV004981795 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.1088C>G (p.T363R) alteration is located in exon 2 (coding exon 1) of the ZBTB42 gene. This alteration results from a C to G substitution at nucleotide position 1088, causing the threonine (T) at amino acid position 363 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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