ClinVar Miner

Submissions for variant NM_015932.6(POMP):c.91C>T (p.Leu31Phe)

gnomAD frequency: 0.00026  dbSNP: rs138472024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012345 SCV002284161 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 31 of the POMP protein (p.Leu31Phe). This variant is present in population databases (rs138472024, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with POMP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1492095). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002497981 SCV002816094 uncertain significance Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome; Proteasome-associated autoinflammatory syndrome 2 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656817 SCV005149041 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.91C>T (p.L31F) alteration is located in exon 2 (coding exon 2) of the POMP gene. This alteration results from a C to T substitution at nucleotide position 91, causing the leucine (L) at amino acid position 31 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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