ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.2069C>G (p.Thr690Ser)

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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 RCV003423136 SCV004138970 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing POLRMT: BP4
Ambry Genetics RCV004847965 SCV005483638 uncertain significance not specified 2024-11-20 criteria provided, single submitter clinical testing The c.2069C>G (p.T690S) alteration is located in exon 10 (coding exon 10) of the POLRMT gene. This alteration results from a C to G substitution at nucleotide position 2069, causing the threonine (T) at amino acid position 690 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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