ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)

gnomAD frequency: 0.00004  dbSNP: rs765305996
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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 RCV000623280 SCV000741470 likely pathogenic Inborn genetic diseases 2020-11-16 criteria provided, single submitter clinical testing The c.494T>C (p.L165P) alteration is located in exon 2 (coding exon 1) of the ECEL1 gene. This alteration results from a T to C substitution at nucleotide position 494, causing the leucine (L) at amino acid position 165 to be replaced by a proline (P). Based on data from the Genome Aggregation Database (gnomAD) database, the ECEL1 c.494T>C alteration was observed in 0.004% (7/183120) of total alleles studied, with a frequency of 0.03% (7/25980) in the South Asian subpopulation. This alteration has been detected in the homozygous state multiple patients with a clinical phenotype consistent with ECEL1-related multiple congenital contractures (Ambry internal data; North Thames Genomic Laboratory Hub personal communication). In addition, this alteration was reported in trans with a second missense variant in a patient with distal arthrogryposis (Lindstrand, 2019). This amino acid position is conserved in available mammalian species. The p.L165P alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000787365 SCV000926327 uncertain significance Arthrogryposis multiplex congenita 2019-04-09 criteria provided, single submitter clinical testing
GeneDx RCV001756022 SCV001987840 pathogenic not provided 2025-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25099528, 37273706, 25708584, 24782201, 23261301, 23236030, 34940998, 30919572, 33726816, 36002593, 31694722)
Centogene AG - the Rare Disease Company RCV001809702 SCV002059566 uncertain significance Distal arthrogryposis type 5D 2020-02-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001809702 SCV003831371 uncertain significance Distal arthrogryposis type 5D 2020-08-06 criteria provided, single submitter clinical testing

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