Submissions for variant NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) (rs376436045)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000755414	SCV000605449	likely benign	not provided	2017-12-12	criteria provided, single submitter	clinical testing	The p.Ala10Pro variant (rs1376436045) has not been reported in the medical literature nor listed in gene-specific variant databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.5 percent in the African population (identified on 83 out of 15978 chromosomes) and has been reported to the ClinVar database (Variation ID: 440359). The alanine at codon 10 is weakly conserved considering 14 species (Alamut v2.10) and Wallaby has proline at this position. Computational analyses of the p.Ala10Pro variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Given the current evidence, this variant is considered to be likely benign.
GeneDx	RCV000508033	SCV000723329	likely benign	not specified	2017-09-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001080634	SCV001006431	benign	Charcot-Marie-Tooth disease axonal type 2C	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001174124	SCV001337245	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing