ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.1278+5_1278+8del (rs1568898560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000723198 SCV000854329 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000779357 SCV000915957 uncertain significance Knobloch syndrome 1 2017-04-28 criteria provided, single submitter clinical testing The COL18A1 c.738+5_738+8delGTGA variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Knobloch syndrome.

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