ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met)

gnomAD frequency: 0.00021  dbSNP: rs200036888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498973 SCV000590115 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LTBP4 gene. The V1234M variant has not been published as pathogenic or been reported as benign to our knowledge. However, it has been observed in 29/66306 (0.04%) alleles from individuals of Non-Finnish European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this substitution occurs at a position that is conserved in mammals, V1234M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000498973 SCV001052137 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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