ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) (rs143578698)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724552 SCV000232276 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000187108 SCV000240683 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080133 SCV000560152 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000187108 SCV000594155 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515242 SCV000611459 uncertain significance Neuronal ceroid lipofuscinosis 6; Adult neuronal ceroid lipofuscinosis 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716876 SCV000847720 uncertain significance Seizures 2018-11-11 criteria provided, single submitter clinical testing The p.S308T variant (also known as c.923G>C), located in coding exon 7 of the CLN6 gene, results from a G to C substitution at nucleotide position 923. The serine at codon 308 is replaced by threonine, an amino acid with similar properties. In one study, this alteration was detected in conjunction with two additional CLN6 alterations c.150C>G (p.T50*) and c.231C>G (p.N77K) in an individual with Kufs disease; however, the phase of these three alterations was not confirmed (Arsov T et al. Am. J. Hum. Genet., 2011 May;88:566-73). This amino acid position is well 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.
Illumina Clinical Services Laboratory,Illumina RCV001080133 SCV001277914 uncertain significance Neuronal ceroid lipofuscinosis 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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