ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.952C>T (p.Pro318Ser)

gnomAD frequency: 0.00010  dbSNP: rs150128284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728694 SCV000856299 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000728694 SCV001813995 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002535085 SCV003527865 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.952C>T (p.P318S) alteration is located in exon 9 (coding exon 9) of the TRMU gene. This alteration results from a C to T substitution at nucleotide position 952, causing the proline (P) at amino acid position 318 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830600 SCV002076162 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2019-11-11 no assertion criteria provided clinical testing

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