ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.1113G>C (p.Thr371=)

gnomAD frequency: 0.00191  dbSNP: rs140017632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357673 SCV000398837 likely benign Hereditary spastic paraplegia 35 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000517834 SCV000613262 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV001086914 SCV000754327 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000827111 SCV000968730 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing

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