ClinVar Miner

Submissions for variant NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000511544 SCV000608283 uncertain significance Microcephaly and chorioretinopathy, autosomal recessive, 1 2017-02-16 no assertion criteria provided clinical testing The c.3139C>T(p.Arg1047Trp) variant has been reported in the dpSNP database with an identification number rs538652140 and in ExAC database with allele frequency of 0.04% in South Asian population; however, no homozygosity has been reported. The in silico prediction of this variant is probably damaging by SIFT and PolyPhen2 and benign by LRT, MutationTaster, Mutation Assessor and FATHMM. The c.5149G>A (p.Ala1714Thr) has been reported in ExAC database as a rare variant in South Asian population with allele frequency of 0.04%; however, no homozygosity has been reported. The in silico prediction of this variant is probably damaging by MutationTaster, PolyPhen-2 and Mutation Assessor and benign by SIFT, LRT and FATHMM.

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