Submissions for variant NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del)

dbSNP: rs1555371600

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001219506	SCV001391449	uncertain significance	Hereditary spastic paraplegia 6	2023-10-13	criteria provided, single submitter	clinical testing	This variant, c.21_26del, results in the deletion of 2 amino acid(s) of the NIPA1 protein (p.Ala15_Ala16del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NIPA1-related conditions. This variant has been observed in at least one individual who was not affected with NIPA1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 948284). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847196	SCV002105420	likely benign	Hereditary spastic paraplegia	2021-09-01	criteria provided, single submitter	clinical testing