ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly)

gnomAD frequency: 0.00013  dbSNP: rs377479985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993318 SCV001146171 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000993318 SCV001153418 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TGM6: BP4
Invitae RCV000993318 SCV001671184 likely benign not provided 2023-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549838 SCV003686132 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.2078A>G (p.D693G) alteration is located in exon 13 (coding exon 13) of the TGM6 gene. This alteration results from a A to G substitution at nucleotide position 2078, causing the aspartic acid (D) at amino acid position 693 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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