ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.338C>T (p.Thr113Met)

gnomAD frequency: 0.00003  dbSNP: rs758830997
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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 RCV001365750 SCV001562030 uncertain significance Neuronal ceroid lipofuscinosis 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 113 of the CLN6 protein (p.Thr113Met). This variant is present in population databases (rs758830997, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CLN6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056860). 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.
Mendelics RCV002246341 SCV002516259 likely pathogenic Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 2022-05-04 criteria provided, single submitter clinical testing

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