ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)

gnomAD frequency: 0.00001  dbSNP: rs781040444
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278070 SCV002226599 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-11-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 88 of the CPT1A protein (p.Asn88Ser). This variant is present in population databases (rs781040444, gnomAD 0.01%). 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: 990122). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001278070 SCV002783436 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003246823 SCV003951815 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.263A>G (p.N88S) alteration is located in exon 3 (coding exon 2) of the CPT1A gene. This alteration results from a A to G substitution at nucleotide position 263, causing the asparagine (N) at amino acid position 88 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003393942 SCV004118964 uncertain significance CPT1A-related disorder 2023-02-07 criteria provided, single submitter clinical testing The CPT1A c.263A>G variant is predicted to result in the amino acid substitution p.Asn88Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-68579923-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001278070 SCV001465063 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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