ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.1325A>T (p.Asp442Val)

gnomAD frequency: 0.00001  dbSNP: rs1015865458
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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 RCV002012762 SCV002279843 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 442 of the LRRK1 protein (p.Asp442Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LRRK1-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 RCV004641866 SCV005135744 uncertain significance Inborn genetic diseases 2024-05-09 criteria provided, single submitter clinical testing The c.1325A>T (p.D442V) alteration is located in exon 10 (coding exon 9) of the LRRK1 gene. This alteration results from a A to T substitution at nucleotide position 1325, causing the aspartic acid (D) at amino acid position 442 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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