ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)

gnomAD frequency: 0.00036  dbSNP: rs149034301
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366240 SCV001562536 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 554 of the SERAC1 protein (p.Leu554Val). This variant is present in population databases (rs149034301, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SERAC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1057290). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SERAC1 protein function. 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.
Ambry Genetics RCV002548577 SCV003604608 uncertain significance Inborn genetic diseases 2022-02-09 criteria provided, single submitter clinical testing The c.1660T>G (p.L554V) alteration is located in exon 15 (coding exon 14) of the SERAC1 gene. This alteration results from a T to G substitution at nucleotide position 1660, causing the leucine (L) at amino acid position 554 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003232328 SCV003930217 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003232328 SCV004156330 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SERAC1: BP4

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.