ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)

gnomAD frequency: 0.00002  dbSNP: rs778982551
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726582 SCV000240642 uncertain significance not provided 2020-11-10 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
Invitae RCV000473058 SCV000549220 likely benign Neuronal ceroid lipofuscinosis 2024-01-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726582 SCV000701640 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311261 SCV000846896 uncertain significance Inborn genetic diseases 2016-08-04 criteria provided, single submitter clinical testing The p.A85P variant (also known as c.253G>C), located in coding exon 1 of the CLN5 gene, results from a G to C substitution at nucleotide position 253. The alanine at codon 85 is replaced by proline, an amino acid with highly similar properties. 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 variant remains unclear.
Baylor Genetics RCV001336971 SCV001530512 uncertain significance Neuronal ceroid lipofuscinosis 5 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001336971 SCV002027055 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing

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