ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1135G>A (p.Val379Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060156 SCV003448023 benign Spastic paraplegia 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003358067 SCV004077577 uncertain significance Inborn genetic diseases 2023-07-14 criteria provided, single submitter clinical testing The c.1135G>A (p.V379M) alteration is located in exon 6 (coding exon 6) of the RTN2 gene. This alteration results from a G to A substitution at nucleotide position 1135, causing the valine (V) at amino acid position 379 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898722 SCV004715995 likely benign RTN2-related disorder 2022-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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