ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)

gnomAD frequency: 0.00001  dbSNP: rs755698899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039809 SCV001203357 likely benign Spastic paraplegia 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963010 SCV005498798 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.9232A>G (p.N3078D) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 9232, causing the asparagine (N) at amino acid position 3078 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274925 SCV001459485 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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