ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.5279C>T (p.Ser1760Phe)

gnomAD frequency: 0.00001  dbSNP: rs770946839
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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 RCV001877071 SCV002129551 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1760 of the LRRK1 protein (p.Ser1760Phe). This variant is present in population databases (rs770946839, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LRRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370264). 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 RCV002551626 SCV003603161 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.5279C>T (p.S1760F) alteration is located in exon 32 (coding exon 31) of the LRRK1 gene. This alteration results from a C to T substitution at nucleotide position 5279, causing the serine (S) at amino acid position 1760 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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