ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.178C>G (p.Leu60Val)

dbSNP: rs760185006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046911 SCV001210832 uncertain significance Progressive myoclonic epilepsy type 8 2019-12-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CERS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces leucine with valine at codon 60 of the CERS1 protein (p.Leu60Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.
Ambry Genetics RCV004031458 SCV004926312 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing The c.178C>G (p.L60V) alteration is located in exon 1 (coding exon 1) of the CERS1 gene. This alteration results from a C to G substitution at nucleotide position 178, causing the leucine (L) at amino acid position 60 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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