ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)

gnomAD frequency: 0.00002  dbSNP: rs755329143
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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 RCV002019747 SCV002282495 uncertain significance Bardet-Biedl syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 571 of the BBS2 protein (p.Met571Ile). This variant is present in population databases (rs755329143, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1497114). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002498001 SCV002777006 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269066 SCV003970523 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.1713G>A (p.M571I) alteration is located in exon 14 (coding exon 14) of the BBS2 gene. This alteration results from a G to A substitution at nucleotide position 1713, causing the methionine (M) at amino acid position 571 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733442 SCV005349166 uncertain significance BBS2-related disorder 2024-03-09 no assertion criteria provided clinical testing The BBS2 c.1713G>A variant is predicted to result in the amino acid substitution p.Met571Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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