ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)

dbSNP: rs779077705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213825 SCV001385475 uncertain significance Spastic paraplegia 2022-10-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 943603). This variant has not been reported in the literature in individuals affected with GJC2-related conditions. This variant is present in population databases (rs779077705, gnomAD 0.04%). This variant, c.436_462del, results in the deletion of 9 amino acid(s) of the GJC2 protein (p.Pro146_Glu154del), but otherwise preserves the integrity of the reading frame.
GenomeConnect - Invitae Patient Insights Network RCV001535700 SCV001749780 not provided Hypomyelinating leukodystrophy 2; Lymphatic malformation 3; Hereditary spastic paraplegia 44 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-30-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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