ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.436A>G (p.Ile146Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004605749 SCV005099051 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.436A>G (p.I146V) alteration is located in exon 7 (coding exon 7) of the BBS4 gene. This alteration results from a A to G substitution at nucleotide position 436, causing the isoleucine (I) at amino acid position 146 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003774 SCV005630874 uncertain significance Bardet-Biedl syndrome 4 2024-02-13 criteria provided, single submitter clinical testing

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