ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)

gnomAD frequency: 0.00007  dbSNP: rs200546493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034776 SCV001198074 uncertain significance Joubert syndrome 21 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1032 of the CSPP1 protein (p.Val1032Ile). This variant is present in population databases (rs200546493, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CSPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 834148). 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 RCV001034776 SCV001524921 uncertain significance Joubert syndrome 21 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002552064 SCV003687276 uncertain significance Inborn genetic diseases 2021-11-19 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003432994 SCV004155915 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CSPP1: BP4

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