ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile)

dbSNP: rs1888974156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001250479 SCV001386723 uncertain significance Hereditary spastic paraplegia 49 2020-07-11 criteria provided, single submitter curation This variant has been reported compound heterozygous with the pathogenic variant c.1319del, p.(Leu440Argfs*19) in one individual from Ashkenazi Jewish descent (PMID: 26542466). He displayed developmental delay, muscular hypotonia, gait ataxia and symptoms of autonomic neuropathy. The variant is paternally inherited. This missense variant c.566C>T, p.(Thr189Ile) in exon 4/20 of TECPR2 has not been reported in the general population (gnomAD), in public mutation databases or in the literature. Biallelic truncating or missense variants have been described to cause "Spastic paraplegia 49, autosomal recessive" (Oz-Levi et al. Am J Hum Genet. 2012, PMID: 23176824). Multiple in silico-tools predict this variant as damaging. Taken together, we classify this variant as of unknown significance based on the ACMG recommendations (Richards et al., 2015, PMID 25741868; criteria: PM2 PM3 PP3).
OMIM RCV001250479 SCV001890896 pathogenic Hereditary spastic paraplegia 49 2021-09-15 no assertion criteria provided literature only

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