ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.991-6T>G

gnomAD frequency: 0.00016  dbSNP: rs192428744
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388283 SCV000386894 likely benign Hereditary spastic paraplegia 3A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000388283 SCV001728257 benign Hereditary spastic paraplegia 3A 2023-06-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848113 SCV002106244 likely benign Hereditary spastic paraplegia 2019-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259850 SCV002539612 benign Neuropathy, hereditary sensory, type 1D 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000388283 SCV002539613 benign Hereditary spastic paraplegia 3A 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379192 SCV002694603 likely benign Inborn genetic diseases 2021-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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