ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe)

dbSNP: rs1085307837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489585 SCV000577433 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Invitae RCV000489585 SCV003219167 likely pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 426871). This missense change has been observed in individual(s) with clinical features of Knobloch syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1204 of the COL18A1 protein (p.Ser1204Phe).
Ambry Genetics RCV003243149 SCV003980648 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.3611C>T (p.S1204F) alteration is located in exon 40 (coding exon 40) of the COL18A1 gene. This alteration results from a C to T substitution at nucleotide position 3611, causing the serine (S) at amino acid position 1204 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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