ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.939del (p.Thr314fs)

gnomAD frequency: 0.00005  dbSNP: rs768449676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003422388 SCV004139774 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing RTN2: PS1:Moderate, PS4:Moderate, BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003750788 SCV004549909 pathogenic Spastic paraplegia 2023-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr314Leufs*8) in the RTN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTN2 are known to be pathogenic (PMID: 22232211, 27165006). This variant is present in population databases (rs768449676, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 24123792). ClinVar contains an entry for this variant (Variation ID: 378054). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003422388 SCV005079950 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Reported in individuals with spastic paraplegia in published literature (PMID: 24123792, 32814230, 27165006); This variant is associated with the following publications: (PMID: 24123792, 25621899, 31589614, 28406212, 35684947, 32814230, 27165006, 34697415)
OMIM RCV000422203 SCV000513412 pathogenic Hereditary spastic paraplegia 12 2017-03-02 no assertion criteria provided literature only

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