ClinVar Miner

Submissions for variant NM_152222.2(RELT):c.521T>G (p.Leu174Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology RCV003482916 SCV004014843 likely pathogenic Amelogenesis imperfecta 2023-05-20 criteria provided, single submitter clinical testing Homozygous mutations in RELT have been reported to cause autosomal recessive AI. Multiple missense mutations have been reported to be associated with AI. The variant cosegregation with the disease in this family. The RELT variant (c.521T>G) is absent in the dbSNP database and the 1000 Genomes Project Consortium. It was predicted to be damaging by SIFT (0.001, Deleterious), Polyphen2_HDIV (0.999, Probably damaging), MutationTaster (0.99, Disease-causing) and CADD (score: 28.7). These nucleotide change in RELT were absent in 144 ethnically matched normal controls. Amino-acid alignment analysis revealed that the affected residues were highly conserved among different species.

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