ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.1685C>T (p.Thr562Ile)

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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 RCV002577509 SCV002931626 uncertain significance not provided 2022-06-02 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with LRRK1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 562 of the LRRK1 protein (p.Thr562Ile).
Ambry Genetics RCV004064475 SCV004900264 uncertain significance Inborn genetic diseases 2024-03-08 criteria provided, single submitter clinical testing The c.1685C>T (p.T562I) alteration is located in exon 13 (coding exon 12) of the LRRK1 gene. This alteration results from a C to T substitution at nucleotide position 1685, causing the threonine (T) at amino acid position 562 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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