ClinVar Miner

Submissions for variant NM_001173524.2(RO60):c.1030C>T (p.Arg344Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003421313 SCV004125129 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing RO60: BP4
Ambry Genetics RCV004364483 SCV005013482 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.1030C>T (p.R344C) alteration is located in exon 5 (coding exon 4) of the TROVE2 gene. This alteration results from a C to T substitution at nucleotide position 1030, causing the arginine (R) at amino acid position 344 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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