ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)

dbSNP: rs1402614845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285095 SCV001471447 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2020-06-02 criteria provided, single submitter clinical testing The PLOD1 c.4C>T; p.Arg2Trp variant (rs1402614845), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only five chromosomes (5/132228 alleles) in the Genome Aggregation Database. The arginine at codon 2 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg2Trp variant is uncertain at this time.
Ambry Genetics RCV004035529 SCV003990450 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-05 criteria provided, single submitter clinical testing The c.4C>T (p.R2W) alteration is located in exon 1 (coding exon 1) of the PLOD1 gene. This alteration results from a C to T substitution at nucleotide position 4, causing the arginine (R) at amino acid position 2 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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