ClinVar Miner

Submissions for variant NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu)

dbSNP: rs767129610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001028042 SCV001525148 uncertain significance Otofaciocervical syndrome 2 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002552016 SCV003491234 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 394 of the PAX1 protein (p.Pro394Leu). This variant is present in population databases (rs767129610, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 828160). 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: "Possibly Damaging"; 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 RCV003160187 SCV003879525 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.1181C>T (p.P394L) alteration is located in exon 4 (coding exon 4) of the PAX1 gene. This alteration results from a C to T substitution at nucleotide position 1181, causing the proline (P) at amino acid position 394 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028042 SCV001190809 uncertain significance Otofaciocervical syndrome 2 2020-02-05 no assertion criteria provided clinical testing

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