Submissions for variant NM_012073.5(CCT5):c.1194G>A (p.Ala398=)

gnomAD frequency: 0.00768  dbSNP: rs113262482

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528806	SCV000640446	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	2023-12-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000528806	SCV001315553	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics	RCV004716543	SCV005298675	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700407	SCV001918806	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700407	SCV001968914	benign	not specified		no assertion criteria provided	clinical testing