ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)

dbSNP: rs1568572979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687658 SCV000815241 uncertain significance Pigmentary pallidal degeneration 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 367 of the PANK2 protein (p.Ala367Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of PANK2-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002544785 SCV003629137 uncertain significance Inborn genetic diseases 2022-06-28 criteria provided, single submitter clinical testing The c.1099G>T (p.A367S) alteration is located in exon 3 (coding exon 3) of the PANK2 gene. This alteration results from a G to T substitution at nucleotide position 1099, causing the alanine (A) at amino acid position 367 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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