ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.-100+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994751 SCV004812833 benign Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 2023-05-04 criteria provided, single submitter clinical testing African/African American population allele frequency is 5.392% (rs773651797, 469/8,698 alleles, 17 homozygotes in gnomAD v3.1). The results from multiple in silico splicing predictors (SpliceAI, MaxEntScan, NNSplice) indicate that this variant may not impact splicing of the donor splice site of intron 2 of TTI2. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1, PP3

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