ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)

gnomAD frequency: 0.00003  dbSNP: rs750191719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539032 SCV000632618 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV003332190 SCV004040452 uncertain significance not provided 2023-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003372744 SCV004061953 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.985G>T (p.D329Y) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a G to T substitution at nucleotide position 985, causing the aspartic acid (D) at amino acid position 329 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000539032 SCV001454235 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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