ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.995C>T (p.Ala332Val) (rs141647564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712173 SCV000842603 benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV000712173 SCV001108995 benign not provided 2020-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000322 SCV001157018 uncertain significance not specified 2018-09-19 criteria provided, single submitter clinical testing The LBR c.995C>T; p.Ala332Val variant (rs141647564), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the African population at an overall frequency of 1.1% (261/24014 alleles, 3 homozygotes) in the Genome Aggregation Database. The alanine at codon 332 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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