ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)

gnomAD frequency: 0.00106  dbSNP: rs61729285
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664149 SCV000787601 uncertain significance Monogenic diabetes 2017-02-17 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors)
Labcorp Genetics (formerly Invitae), Labcorp RCV000957608 SCV001104421 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144466 SCV003829267 uncertain significance Congenital generalized lipodystrophy type 4 2020-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026073 SCV004919848 uncertain significance not specified 2023-09-29 criteria provided, single submitter clinical testing The c.65C>T (p.P22L) alteration is located in exon 1 (coding exon 1) of the PTRF gene. This alteration results from a C to T substitution at nucleotide position 65, causing the proline (P) at amino acid position 22 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003945692 SCV004763365 likely benign CAVIN1-related disorder 2020-10-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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