ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn)

gnomAD frequency: 0.00041  dbSNP: rs142406714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518049 SCV000615790 benign not specified 2023-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901830 SCV001046219 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243165 SCV003943598 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.1705T>A (p.Y569N) alteration is located in exon 11 (coding exon 11) of the TGM6 gene. This alteration results from a T to A substitution at nucleotide position 1705, causing the tyrosine (Y) at amino acid position 569 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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