ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1966C>G (p.His656Asp)

dbSNP: rs1405682081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761790 SCV000891985 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533880 SCV003600548 uncertain significance Inborn genetic diseases 2022-01-18 criteria provided, single submitter clinical testing The c.1966C>G (p.H656D) alteration is located in exon 16 (coding exon 15) of the CPT1A gene. This alteration results from a C to G substitution at nucleotide position 1966, causing the histidine (H) at amino acid position 656 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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