Submissions for variant NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)

gnomAD frequency: 0.00019  dbSNP: rs139496915

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178339	SCV000230402	uncertain significance	not provided	2014-11-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152760	SCV001313990	uncertain significance	Joubert syndrome 17	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000178339	SCV002278881	likely benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020121	SCV004850586	likely benign	Inborn genetic diseases	2024-06-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV005042388	SCV005673818	uncertain significance	Orofaciodigital syndrome type 6; Joubert syndrome 17	2024-05-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752778	SCV005364358	uncertain significance	CPLANE1-related disorder	2024-05-10	no assertion criteria provided	clinical testing	The CPLANE1 c.221C>T variant is predicted to result in the amino acid substitution p.Ala74Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.