ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.3704A>G (p.Asn1235Ser)

gnomAD frequency: 0.00046  dbSNP: rs200852252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574080 SCV001800831 uncertain significance not provided 2024-05-21 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; This variant is associated with the following publications: (PMID: 21520338, 31554319, 9590290)
Labcorp Genetics (formerly Invitae), Labcorp RCV001574080 SCV004270537 benign not provided 2023-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039426 SCV004963845 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.3704A>G (p.N1235S) alteration is located in exon 11 (coding exon 11) of the TECTA gene. This alteration results from a A to G substitution at nucleotide position 3704, causing the asparagine (N) at amino acid position 1235 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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