ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.443G>T (p.Ser148Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003259329 SCV003946329 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.443G>T (p.S148I) alteration is located in exon 5 (coding exon 4) of the LRRK1 gene. This alteration results from a G to T substitution at nucleotide position 443, causing the serine (S) at amino acid position 148 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005102511 SCV005831249 likely benign not provided 2024-09-26 criteria provided, single submitter clinical testing

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