ClinVar Miner

Submissions for variant NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)

gnomAD frequency: 0.00044  dbSNP: rs142263208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001096328 SCV001252528 benign Gelatinous droplike corneal dystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV004032007 SCV003750344 uncertain significance not specified 2022-09-22 criteria provided, single submitter clinical testing The c.899G>A (p.R300Q) alteration is located in exon 1 (coding exon 1) of the TACSTD2 gene. This alteration results from a G to A substitution at nucleotide position 899, causing the arginine (R) at amino acid position 300 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004715375 SCV005287148 benign not provided criteria provided, single submitter not provided

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