ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)

gnomAD frequency: 0.00001  dbSNP: rs374597380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311152 SCV000320282 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-10 criteria provided, single submitter clinical testing The p.T32M variant (also known as c.95C>T), located in coding exon 2 of the PLOD1 gene, results from a C to T substitution at nucleotide position 95. The threonine at codon 32 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001770225 SCV002003800 uncertain significance not provided 2021-04-12 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001854992 SCV002206136 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001854992 SCV002790200 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323482 SCV004028569 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing

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