Submissions for variant NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)

gnomAD frequency: 0.00016  dbSNP: rs141854925

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000513492	SCV000608774	uncertain significance	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541410	SCV000629518	likely benign	Spastic paraplegia	2024-01-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000513492	SCV000842005	uncertain significance	not provided	2018-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117253	SCV001275425	uncertain significance	Hereditary spastic paraplegia 35	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, this variant 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, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848878	SCV002104670	uncertain significance	Hereditary spastic paraplegia	2020-11-18	criteria provided, single submitter	clinical testing