ClinVar Miner

Submissions for variant NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002284009 SCV002573321 uncertain significance Autosomal recessive congenital ichthyosis 10 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Missense changes are a common disease-causing mechanism. However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Ambry Genetics RCV003097659 SCV003536994 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.1489T>C (p.S497P) alteration is located in exon 8 (coding exon 8) of the PNPLA1 gene. This alteration results from a T to C substitution at nucleotide position 1489, causing the serine (S) at amino acid position 497 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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