ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.3284A>T (p.Glu1095Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003545783 SCV004266082 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587521 SCV005076532 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing Variant summary: TCF20 c.3284A>T (p.Glu1095Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251468 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3284A>T in individuals affected with Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2712334). Based on the evidence outlined above, the variant was classified as uncertain significance.

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