ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp)

gnomAD frequency: 0.00004  dbSNP: rs200837976
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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 RCV001332054 SCV001524253 uncertain significance 3M syndrome 2 2020-08-01 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 RCV002546526 SCV003486089 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1332 of the OBSL1 protein (p.Arg1332Trp). 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 variant has not been reported in the literature in individuals affected with OBSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030488). 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: "Probably 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 RCV002546525 SCV003668494 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.3994C>T (p.R1332W) alteration is located in exon 12 (coding exon 12) of the OBSL1 gene. This alteration results from a C to T substitution at nucleotide position 3994, causing the arginine (R) at amino acid position 1332 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001332054 SCV003814233 uncertain significance 3M syndrome 2 2021-04-24 criteria provided, single submitter clinical testing

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