ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)

gnomAD frequency: 0.00013  dbSNP: rs147750747
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725884 SCV000241767 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing Variant identified in individual with juvenile myoclonic epilepsy and febrile seizures; however, several other variants in other genes were also identified including a likely pathogenic variant in SZT2 (Lee et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29924869)
Invitae RCV001086515 SCV000291531 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725884 SCV000340248 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086515 SCV000447476 uncertain significance Neuronal ceroid lipofuscinosis 7 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.
Ambry Genetics RCV002317122 SCV000851724 uncertain significance Inborn genetic diseases 2018-08-17 criteria provided, single submitter clinical testing The p.P69L variant (also known as c.206C>T), located in coding exon 4 of the MFSD8 gene, results from a C to T substitution at nucleotide position 206. The proline at codon 69 is replaced by leucine, an amino acid with similar properties. This alteration was detected in an individual with epilepsy from a Korean cohort who also had other variants in epilepsy-related genes (Lee CG et al. PLoS ONE. 2018 Jun;13(6):e0199321). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725884 SCV003808798 uncertain significance not provided 2020-03-23 criteria provided, single submitter clinical testing

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