ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)

gnomAD frequency: 0.00004  dbSNP: rs768603321
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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 RCV001042057 SCV001205717 uncertain significance Joubert syndrome 21 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1087 of the CSPP1 protein (p.Ser1087Leu). This variant is present in population databases (rs768603321, 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: 840138). 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 RCV001042057 SCV001524922 uncertain significance Joubert syndrome 21 2019-12-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004031271 SCV004852155 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.3260C>T (p.S1087L) alteration is located in exon 27 (coding exon 27) of the CSPP1 gene. This alteration results from a C to T substitution at nucleotide position 3260, causing the serine (S) at amino acid position 1087 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693484 SCV005195989 uncertain significance not provided criteria provided, single submitter not provided

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