ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)

gnomAD frequency: 0.00003  dbSNP: rs751603399
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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 RCV000691385 SCV000819161 uncertain significance Myasthenic syndrome, congenital, 22 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 699 of the PREPL protein (p.Ile699Phe). This variant is present in population databases (rs751603399, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with PREPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 570518). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002544908 SCV003609279 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.2095A>T (p.I699F) alteration is located in exon 14 (coding exon 14) of the PREPL gene. This alteration results from a A to T substitution at nucleotide position 2095, causing the isoleucine (I) at amino acid position 699 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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