ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)

gnomAD frequency: 0.00011  dbSNP: rs200810800
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000300780 SCV000383352 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics RCV000516210 SCV000614958 uncertain significance not provided 2019-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000300780 SCV000896346 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001242340 SCV001415421 benign Spastic paraplegia 2024-09-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000300780 SCV002026525 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520868 SCV003738776 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.4936C>A (p.L1646M) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to A substitution at nucleotide position 4936, causing the leucine (L) at amino acid position 1646 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000300780 SCV001460061 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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