ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) (rs1243762658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000627687 SCV000673449 likely pathogenic Microphthalmia, isolated, with coloboma 9 criteria provided, single submitter clinical testing This missense variant [c.4046C>G (p.Ala1349Gly)] is found to be compound heterozygous with another variant [c.7687C>T (p.Arg2563Trp)] in TENM3 gene. These variations are not reported in the 1000 Genomes database and are predicted to be damaging by SIFT and PolyPhen. The region is conserved across species.
OMIM RCV000790852 SCV000930037 pathogenic MICROPHTHALMIA, SYNDROMIC 15 2019-07-30 no assertion criteria provided literature only

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