ClinVar Miner

Submissions for variant NM_014832.5(TBC1D4):c.3827A>G (p.Asn1276Ser)

gnomAD frequency: 0.00052  dbSNP: rs199954281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503889 SCV000597400 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000503889 SCV005519256 uncertain significance not specified 2024-10-12 criteria provided, single submitter clinical testing The c.3827A>G (p.N1276S) alteration is located in exon 21 (coding exon 21) of the TBC1D4 gene. This alteration results from a A to G substitution at nucleotide position 3827, causing the asparagine (N) at amino acid position 1276 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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