ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.3179T>C (p.Leu1060Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004768328 SCV005376256 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004968637 SCV005548438 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.3179T>C (p.L1060P) alteration is located in exon 11 (coding exon 11) of the BPTF gene. This alteration results from a T to C substitution at nucleotide position 3179, causing the leucine (L) at amino acid position 1060 to be replaced by a proline (P). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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