Submissions for variant NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)

gnomAD frequency: 0.00104  dbSNP: rs146214639

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082795	SCV000754102	likely benign	Pityriasis rubra pilaris; Psoriasis 2	2024-01-26	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001082795	SCV002496031	uncertain significance	Pityriasis rubra pilaris; Psoriasis 2	2022-02-08	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in 0.1% (125/67922) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-80184012-T-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:68781). This variant amino acid Arginine (Arg) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262616	SCV002543313	likely benign	Autoinflammatory syndrome	2017-05-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002513783	SCV003563206	uncertain significance	Inborn genetic diseases	2022-03-25	criteria provided, single submitter	clinical testing	The c.449T>G (p.L150R) alteration is located in exon 4 (coding exon 3) of the CARD14 gene. This alteration results from a T to G substitution at nucleotide position 449, causing the leucine (L) at amino acid position 150 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000059702	SCV004146288	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	CARD14: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003952486	SCV004775025	likely benign	CARD14-related disorder	2022-09-01	criteria provided, single submitter	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).
UniProtKB/Swiss-Prot	RCV000059702	SCV000091272	not provided	not provided		no assertion provided	not provided