ClinVar Miner

Submissions for variant NM_015959.4(TMX2):c.454C>T (p.Arg152Trp)

gnomAD frequency: 0.00001  dbSNP: rs960444778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420248 SCV001622668 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM3_moderate;PP3_supporting;BP1_supporting
Ambry Genetics RCV002554084 SCV003642280 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.454C>T (p.R152W) alteration is located in exon 5 (coding exon 5) of the TMX2 gene. This alteration results from a C to T substitution at nucleotide position 454, causing the arginine (R) at amino acid position 152 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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