ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)

gnomAD frequency: 0.00004  dbSNP: rs527976707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310623 SCV001500497 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001310623 SCV002277711 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001310623 SCV003827168 uncertain significance not provided 2021-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968004 SCV005511473 uncertain significance Inborn genetic diseases 2024-11-27 criteria provided, single submitter clinical testing The c.4430G>A (p.R1477H) alteration is located in exon 13 (coding exon 13) of the TECTA gene. This alteration results from a G to A substitution at nucleotide position 4430, causing the arginine (R) at amino acid position 1477 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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