Submissions for variant NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)

gnomAD frequency: 0.00562  dbSNP: rs35865691

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000516670	SCV000614967	benign	not provided	2019-06-30	criteria provided, single submitter	clinical testing
Invitae	RCV001082654	SCV001002517	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112183	SCV001269822	uncertain significance	Charlevoix-Saguenay spastic ataxia	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.
GeneDx	RCV000516670	SCV001805726	likely benign	not provided	2020-11-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001112183	SCV002026628	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848894	SCV002105064	likely benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing