ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.118T>C (p.Phe40Leu)

dbSNP: rs1645078375
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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 RCV001062850 SCV001227673 uncertain significance Atrial fibrillation, familial, 6 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 40 of the NPPA protein (p.Phe40Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 857219). 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 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.
Baylor Genetics RCV001062850 SCV004040730 uncertain significance Atrial fibrillation, familial, 6 2023-02-24 criteria provided, single submitter clinical testing

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