ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.887T>C (p.Met296Thr)

gnomAD frequency: 0.00056  dbSNP: rs145649029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190673 SCV000244113 uncertain significance Inborn genetic diseases 2013-04-01 criteria provided, single submitter clinical testing Based on data from the NHLBI Exome Sequencing Project (ESP), the C-allele has an overall frequency of approximately 0.04% (4/10758) total alleles studied. The C-allele was observed in 0.06% (4/7020) of European American alleles, was not observed in 3738 African American alleles studied, and was not observed in the homozygous state out of 5379 individuals studied. Based on data from the 1000 Genomes Project, the C-allele has an overall frequency of approximately 2/2188 (0.09%), the highest frequency being 0.83% (1/120) among Colombian chromosomes studied. The alteration is currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP) as rs145649029. The M296 amino acid is not well conserved in available vertebrate species.This alteration is predicted to be tolerated with a score of 0.060 (conservation: 1.95)
Invitae RCV000882224 SCV001025452 likely benign not provided 2023-06-30 criteria provided, single submitter clinical testing

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