ClinVar Miner

Submissions for variant NM_178862.3(STT3B):c.895A>G (p.Ile299Val)

gnomAD frequency: 0.00014  dbSNP: rs141238380
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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 RCV000709840 SCV001092538 likely benign STT3B-congenital disorder of glycosylation 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026785 SCV003739012 uncertain significance not specified 2022-06-30 criteria provided, single submitter clinical testing The c.895A>G (p.I299V) alteration is located in exon 6 (coding exon 6) of the STT3B gene. This alteration results from a A to G substitution at nucleotide position 895, causing the isoleucine (I) at amino acid position 299 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004711295 SCV005258395 likely benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000709840 SCV000840170 not provided STT3B-congenital disorder of glycosylation no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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