ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)

dbSNP: rs1559059936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312471 SCV000847028 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.358C>T (p.P120S) alteration is located in exon 1 (coding exon 1) of the TBR1 gene. This alteration results from a C to T substitution at nucleotide position 358, causing the proline (P) at amino acid position 120 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001766574 SCV001999689 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001836874 SCV002097762 uncertain significance Autism, susceptibility to, 5 2021-01-29 criteria provided, single submitter clinical testing The c.358C>T (p.Pro120Ser) variant identified in the TBR1 gene substitutes a well conserved Proline for Serine at amino acid 120/683 (exon 1/6). This variant is absent from gnomAD(v3.1) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Tolerated (SIFT; score: 0.057) and Benign (REVEL; score:0.207) to the function of the canonical transcript. This variant is reported as a Variant of Uncertain Significance in ClinVar (VarID:587992), and to our current knowledge has not been reported in affected individuals in the literature. The p.Pro120 residue is not within a mapped domain of TBR1 (UniProtKB:Q16650). Given the lack of compelling evidence for its pathogenicity, the c.358C>T (p.Pro120Ser) variant identified in the TBR1 gene is reported as a Variant of Uncertain Significance.
3billion, Medical Genetics RCV001836874 SCV005328547 likely benign Autism, susceptibility to, 5 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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