ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)

gnomAD frequency: 0.00160  dbSNP: rs143730090
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038481 SCV000062159 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing p.Asp612Asn in exon 08 of TECTA: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (42/10348) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143730090).
Eurofins Ntd Llc (ga) RCV000038481 SCV000332526 benign not specified 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001582512 SCV001813255 uncertain significance not provided 2021-05-25 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001582512 SCV002144515 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018875 SCV004963831 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.1834G>A (p.D612N) alteration is located in exon 8 (coding exon 8) of the TECTA gene. This alteration results from a G to A substitution at nucleotide position 1834, causing the aspartic acid (D) at amino acid position 612 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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