ClinVar Miner

Submissions for variant NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)

gnomAD frequency: 0.00005  dbSNP: rs539433580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368333 SCV000476023 uncertain significance Hypercholanemia, familial 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733513 SCV000861590 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733513 SCV004510125 likely benign not provided 2024-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601164 SCV005096162 uncertain significance not specified 2024-05-07 criteria provided, single submitter clinical testing The c.797T>C (p.I266T) alteration is located in exon 4 (coding exon 3) of the BAAT gene. This alteration results from a T to C substitution at nucleotide position 797, causing the isoleucine (I) at amino acid position 266 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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