ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)

dbSNP: rs387906709
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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 RCV000022842 SCV002238512 pathogenic Amyotrophic lateral sclerosis type 15 2021-06-23 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 497 of the UBQLN2 protein (p.Pro497His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects UBQLN2 protein function (PMID: 21857683, 24215460, 25398946). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 29950). This variant has been observed in individuals with amyotrophic lateral sclerosis (PMID: 21857683, 30348461). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency).
OMIM RCV000022842 SCV000044131 pathogenic Amyotrophic lateral sclerosis type 15 2011-08-21 no assertion criteria provided literature only

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