ClinVar Miner

Submissions for variant NM_014494.4(TNRC6A):c.1733C>T (p.Ala578Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003884992 SCV004699110 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TNRC6A: BP4, BS1
Ambry Genetics RCV004676325 SCV005175874 uncertain significance not specified 2024-04-30 criteria provided, single submitter clinical testing The c.1733C>T (p.A578V) alteration is located in exon 6 (coding exon 6) of the TNRC6A gene. This alteration results from a C to T substitution at nucleotide position 1733, causing the alanine (A) at amino acid position 578 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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