ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)

dbSNP: rs149373377
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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 RCV001295485 SCV001484409 uncertain significance Joubert syndrome 15 2022-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 999482). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 10 of the CEP41 protein (p.Pro10Thr).
Ambry Genetics RCV003166643 SCV003891178 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.28C>A (p.P10T) alteration is located in exon 1 (coding exon 1) of the CEP41 gene. This alteration results from a C to A substitution at nucleotide position 28, causing the proline (P) at amino acid position 10 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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