ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)

gnomAD frequency: 0.00001  dbSNP: rs567432143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001143514 SCV001304043 uncertain significance Amyotrophic lateral sclerosis type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001143514 SCV003443831 uncertain significance Amyotrophic lateral sclerosis type 1 2023-08-28 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. 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. ClinVar contains an entry for this variant (Variation ID: 899185). This variant is also known as D109Y. This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 17257622, 21651514, 22985433, 33785574, 35076740). This variant is present in population databases (rs567432143, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 110 of the SOD1 protein (p.Asp110Tyr).
PreventionGenetics, part of Exact Sciences RCV003405351 SCV004116004 uncertain significance SOD1-related disorder 2023-03-08 criteria provided, single submitter clinical testing The SOD1 c.328G>T variant is predicted to result in the amino acid substitution p.Asp110Tyr. This variant (legacy nomenclature p.Asp109Tyr) has been reported in three patients with amyotrophic lateral sclerosis (Naini et al. 2007. PubMed ID: 17257622; Piaceri et al. 2011. PubMed ID: 21651514; Berdyński et al. 2022. PubMed ID: 34996976). This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-33039659-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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