ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.635G>T (p.Gly212Val)

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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 RCV002707531 SCV003553014 uncertain significance Inborn genetic diseases 2020-12-08 criteria provided, single submitter clinical testing The c.635G>T (p.G212V) alteration is located in exon 6 (coding exon 5) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 635, causing the glycine (G) at amino acid position 212 to be replaced by a valine (V). The p.G212V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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