ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser)

gnomAD frequency: 0.00020  dbSNP: rs1046804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042882 SCV001206590 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-08-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 568 of the CPT1A protein (p.Ala568Ser). This variant is present in population databases (rs1046804, gnomAD 0.03%). 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: 840795). 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: "Deleterious"; PolyPhen-2: "Possibly 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 RCV002551522 SCV003702568 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.1702G>T (p.A568S) alteration is located in exon 14 (coding exon 13) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 1702, causing the alanine (A) at amino acid position 568 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001042882 SCV001452927 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-24 no assertion criteria provided clinical testing

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