ClinVar Miner

Submissions for variant NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln)

gnomAD frequency: 0.00001  dbSNP: rs1457306216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004474135 SCV004963182 uncertain significance not specified 2023-11-07 criteria provided, single submitter clinical testing The c.689G>A (p.R230Q) alteration is located in exon 5 (coding exon 4) of the TBCEL gene. This alteration results from a G to A substitution at nucleotide position 689, causing the arginine (R) at amino acid position 230 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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