ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6655A>G (p.Thr2219Ala)

dbSNP: rs2499993516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002875278 SCV003639513 uncertain significance Inborn genetic diseases 2022-08-22 criteria provided, single submitter clinical testing The c.6655A>G (p.T2219A) alteration is located in exon 45 (coding exon 45) of the LRRK2 gene. This alteration results from a A to G substitution at nucleotide position 6655, causing the threonine (T) at amino acid position 2219 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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