ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)

gnomAD frequency: 0.00001  dbSNP: rs765715632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231278 SCV001403794 uncertain significance Bardet-Biedl syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 441 of the BBS4 protein (p.Lys441Thr). This variant is present in population databases (rs765715632, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 958163). 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 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 RCV003166409 SCV003876906 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.1322A>C (p.K441T) alteration is located in exon 15 (coding exon 15) of the BBS4 gene. This alteration results from a A to C substitution at nucleotide position 1322, causing the lysine (K) at amino acid position 441 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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