ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1813G>A (p.Val605Met)

gnomAD frequency: 0.00002  dbSNP: rs747835344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002005779 SCV002270520 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 605 of the CPT1A protein (p.Val605Met). This variant is present in population databases (rs747835344, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1484417). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002579623 SCV003696311 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The c.1813G>A (p.V605M) alteration is located in exon 15 (coding exon 14) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 1813, causing the valine (V) at amino acid position 605 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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