ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)

gnomAD frequency: 0.00001  dbSNP: rs1250423040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058849 SCV001223445 uncertain significance Bardet-Biedl syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 53 of the BBS2 protein (p.Ser53Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). 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 RCV002553849 SCV003549168 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.159T>G (p.S53R) alteration is located in exon 2 (coding exon 2) of the BBS2 gene. This alteration results from a T to G substitution at nucleotide position 159, causing the serine (S) at amino acid position 53 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273916 SCV001457510 uncertain significance Bardet-Biedl syndrome 2 2020-01-17 no assertion criteria provided clinical testing

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