ClinVar Miner

Submissions for variant NM_014832.5(TBC1D4):c.713A>C (p.Lys238Thr)

gnomAD frequency: 0.00030  dbSNP: rs200446215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503605 SCV000597403 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000503605 SCV003749975 uncertain significance not specified 2021-10-27 criteria provided, single submitter clinical testing The c.713A>C (p.K238T) alteration is located in exon 2 (coding exon 2) of the TBC1D4 gene. This alteration results from a A to C substitution at nucleotide position 713, causing the lysine (K) at amino acid position 238 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004705632 SCV005215685 likely benign not provided criteria provided, single submitter not provided

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