ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.53C>T (p.Ala18Val) (rs547125345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000187111 SCV000224574 likely benign not specified 2017-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000766779 SCV000240686 uncertain significance not provided 2018-10-11 criteria provided, single submitter clinical testing The A18V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A18V variant is observed in 51/9610 (0.5%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The A18V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001085594 SCV000549211 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515438 SCV000611458 uncertain significance Neuronal ceroid lipofuscinosis 6; Adult neuronal ceroid lipofuscinosis 2017-05-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187111 SCV000612846 uncertain significance not specified 2016-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718308 SCV000849170 uncertain significance Seizures 2020-08-03 criteria provided, single submitter clinical testing The p.A18V variant (also known as c.53C>T), located in coding exon 1 of the CLN6 gene, results from a C to T substitution at nucleotide position 53. The alanine at codon 18 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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.

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