ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003525667 SCV004368308 uncertain significance Amyotrophic lateral sclerosis type 15 2023-09-25 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 343 of the UBQLN2 protein (p.Gly343Asp). This variant has not been reported in the literature in individuals affected with UBQLN2-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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