ClinVar Miner

Submissions for variant NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg)

gnomAD frequency: 0.00007  dbSNP: rs375282149
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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 RCV004245626 SCV003755756 uncertain significance not specified 2021-09-27 criteria provided, single submitter clinical testing The c.1130A>G (p.Q377R) alteration is located in exon 8 (coding exon 7) of the TBCEL gene. This alteration results from a A to G substitution at nucleotide position 1130, causing the glutamine (Q) at amino acid position 377 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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