Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002878904 | SCV003640353 | uncertain significance | Inborn genetic diseases | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.95A>C (p.Y32S) alteration is located in exon 2 (coding exon 1) of the CPT1A gene. This alteration results from a A to C substitution at nucleotide position 95, causing the tyrosine (Y) at amino acid position 32 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |