ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)

gnomAD frequency: 0.00020  dbSNP: rs139579036
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212079 SCV001383653 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507816 SCV001713616 uncertain significance not provided 2021-03-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001780126 SCV002026495 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363166 SCV004055272 uncertain significance Inborn genetic diseases 2023-09-01 criteria provided, single submitter clinical testing The c.9275A>T (p.Y3092F) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to T substitution at nucleotide position 9275, causing the tyrosine (Y) at amino acid position 3092 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001507816 SCV005390907 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with neurodevelopmental disorder to our knowledge; This variant is associated with the following publications: (PMID: 23280630)
Natera, Inc. RCV001780126 SCV002086198 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-14 no assertion criteria provided clinical testing

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