ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.917T>C (p.Val306Ala)

gnomAD frequency: 0.00011  dbSNP: rs373378747
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327455 SCV001518530 uncertain significance Bardet-Biedl syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 306 of the BBS7 protein (p.Val306Ala). This variant is present in population databases (rs373378747, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1026932). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BBS7 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.
Baylor Genetics RCV001337097 SCV001530673 uncertain significance Bardet-Biedl syndrome 7 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001337097 SCV002791404 uncertain significance Bardet-Biedl syndrome 7 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169538 SCV003863004 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.917T>C (p.V306A) alteration is located in exon 9 (coding exon 9) of the BBS7 gene. This alteration results from a T to C substitution at nucleotide position 917, causing the valine (V) at amino acid position 306 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003938634 SCV004756350 uncertain significance BBS7-related condition 2023-12-01 criteria provided, single submitter clinical testing The BBS7 c.917T>C variant is predicted to result in the amino acid substitution p.Val306Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African 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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