Submissions for variant NM_001128126.3(AP4S1):c.306+4191A>G

gnomAD frequency: 0.00038  dbSNP: rs200969079

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116371	SCV000150295	uncertain significance	not provided	2014-02-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082928	SCV000289612	likely benign	Spastic paraplegia	2024-11-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000116371	SCV000526199	likely benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000116371	SCV001716179	uncertain significance	not provided	2020-05-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847666	SCV002105939	uncertain significance	Hereditary spastic paraplegia	2019-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000116371	SCV002563191	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	AP4S1: BP4
Ambry Genetics	RCV003242984	SCV003941404	uncertain significance	Inborn genetic diseases	2023-04-21	criteria provided, single submitter	clinical testing	The c.373A>G (p.I125V) alteration is located in exon 6 (coding exon 5) of the AP4S1 gene. This alteration results from a A to G substitution at nucleotide position 373, causing the isoleucine (I) at amino acid position 125 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.