ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)

dbSNP: rs1057516756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410367 SCV000486176 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-04-11 criteria provided, single submitter clinical testing
Invitae RCV002523858 SCV003230520 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370774). This variant has not been reported in the literature in individuals affected with LAMB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1012*) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856).
Lifecell International Pvt. Ltd RCV000410367 SCV003926491 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz criteria provided, single submitter clinical testing A Homozygote Nonsense variant c.3034C>T in Exon 20 of the LAMB3 gene that results in the amino acid substitution p.Gln1012* was identified. The observed variant has a maximum allele frequency of 0% in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score. Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Likely Pathogenic with 1 star, criteria provided, single submitter (variant ID: 370774). Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines.

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