ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.893G>T (p.Gly298Val)

gnomAD frequency: 0.00002  dbSNP: rs1310052561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003166603 SCV003896735 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.893G>T (p.G298V) alteration is located in exon 9 (coding exon 8) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 893, causing the glycine (G) at amino acid position 298 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278064 SCV001465057 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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