ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)

gnomAD frequency: 0.00007  dbSNP: rs139048254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004064275 SCV004999792 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.1043A>T (p.Y348F) alteration is located in exon 3 (coding exon 3) of the PANK2 gene. This alteration results from a A to T substitution at nucleotide position 1043, causing the tyrosine (Y) at amino acid position 348 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790216 SCV005410026 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002509004 SCV002818352 not provided Pigmentary pallidal degeneration no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-31-2018 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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