ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu)

gnomAD frequency: 0.00033  dbSNP: rs149389568
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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 RCV001046618 SCV001210527 likely benign not provided 2024-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552599 SCV003695189 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.452A>T (p.Q151L) alteration is located in exon 5 (coding exon 5) of the COL9A1 gene. This alteration results from a A to T substitution at nucleotide position 452, causing the glutamine (Q) at amino acid position 151 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001046618 SCV004159702 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing COL9A1: BP4
GeneDx RCV001046618 SCV005628418 uncertain significance not provided 2024-07-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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