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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693492 SCV005190413 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001042882 SCV001452927 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-24 no assertion criteria provided clinical testing

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