ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.186C>A (p.Asn62Lys)

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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 RCV004660389 SCV005153185 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.186C>A (p.N62K) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a C to A substitution at nucleotide position 186, causing the asparagine (N) at amino acid position 62 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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