ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)

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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 RCV003071333 SCV003452682 uncertain significance Amyotrophic lateral sclerosis type 15 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 525 of the UBQLN2 protein (p.Pro525Ala). This variant is present in population databases (rs369947678, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UBQLN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2145223). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen RCV003886597 SCV004703990 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing UBQLN2: PM5:Supporting, BP4

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