ClinVar Miner

Submissions for variant NM_006493.2(CLN5):c.2T>A (p.Met1Lys)

dbSNP: rs201615354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187058 SCV000240632 uncertain significance not provided 2015-04-27 criteria provided, single submitter clinical testing The c.2 T>C nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This substitution alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if a protein is produced using an alternative Methionine initiator codon. The c.2 T>C variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but the 1000 Genomes Project reports c.2 C>T was observed as an apparently homozygous variant in one individual of Finnish ancestry. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant."
Counsyl RCV000672217 SCV000797304 uncertain significance Neuronal ceroid lipofuscinosis 5 2018-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000672217 SCV002027045 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002054194 SCV002415047 likely benign Neuronal ceroid lipofuscinosis 2022-01-03 criteria provided, single submitter clinical testing

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