ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn)

gnomAD frequency: 0.00001  dbSNP: rs1300341380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042675 SCV001206372 uncertain significance Epilepsy, progressive myoclonic, 1B 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551516 SCV003636180 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.601G>A (p.D201N) alteration is located in exon 6 (coding exon 5) of the PRICKLE1 gene. This alteration results from a G to A substitution at nucleotide position 601, causing the aspartic acid (D) at amino acid position 201 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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