ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met)

gnomAD frequency: 0.00006  dbSNP: rs141895443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042052 SCV001205711 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 537 of the COL9A1 protein (p.Thr537Met). This variant is present in population databases (rs141895443, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 840134). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV001042052 SCV002818799 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in at least one homozygous clinically unaffected adult relative of an individual referred for genetic testing at GeneDx
Ambry Genetics RCV003160283 SCV003876419 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1610C>T (p.T537M) alteration is located in exon 23 (coding exon 23) of the COL9A1 gene. This alteration results from a C to T substitution at nucleotide position 1610, causing the threonine (T) at amino acid position 537 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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