ClinVar Miner

Submissions for variant NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro)

gnomAD frequency: 0.00001  dbSNP: rs200208769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312814 SCV000441180 benign Cataract 12 multiple types 2018-01-12 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 RCV004021889 SCV004914491 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.100T>C (p.S34P) alteration is located in exon 1 (coding exon 1) of the BFSP2 gene. This alteration results from a T to C substitution at nucleotide position 100, causing the serine (S) at amino acid position 34 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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