ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)

gnomAD frequency: 0.00024  dbSNP: rs370605967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230513 SCV001402994 uncertain significance Joubert syndrome 21 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 121 of the CSPP1 protein (p.His121Arg). This variant is present in population databases (rs370605967, gnomAD 0.05%). 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: 957521). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Ambry Genetics RCV003246781 SCV003951473 uncertain significance Inborn genetic diseases 2023-04-06 criteria provided, single submitter clinical testing The c.362A>G (p.H121R) alteration is located in exon 4 (coding exon 4) of the CSPP1 gene. This alteration results from a A to G substitution at nucleotide position 362, causing the histidine (H) at amino acid position 121 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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