ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)

gnomAD frequency: 0.00002  dbSNP: rs1418418672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241808 SCV001414851 uncertain significance Neuronal ceroid lipofuscinosis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 69 of the CLN6 protein (p.Phe69Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CLN6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV005318686 SCV005984435 uncertain significance Inborn genetic diseases 2024-12-28 criteria provided, single submitter clinical testing The c.205T>C (p.F69L) alteration is located in exon 3 (coding exon 3) of the CLN6 gene. This alteration results from a T to C substitution at nucleotide position 205, causing the phenylalanine (F) at amino acid position 69 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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