ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1461G>C (p.Arg487Ser)

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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 RCV004961862 SCV005469106 uncertain significance Inborn genetic diseases 2024-08-04 criteria provided, single submitter clinical testing The c.1461G>C (p.R487S) alteration is located in exon 7 (coding exon 7) of the PINK1 gene. This alteration results from a G to C substitution at nucleotide position 1461, causing the arginine (R) at amino acid position 487 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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