ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.5131C>T (p.Leu1711Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002789334 SCV003746810 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.5131C>T (p.L1711F) alteration is located in exon 15 (coding exon 15) of the TECTA gene. This alteration results from a C to T substitution at nucleotide position 5131, causing the leucine (L) at amino acid position 1711 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003720756 SCV004507453 likely benign not provided 2023-06-06 criteria provided, single submitter clinical testing
GeneDx RCV003720756 SCV005370768 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing 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

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