ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)

gnomAD frequency: 0.00004  dbSNP: rs780789569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712956 SCV000843516 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534513 SCV003556064 uncertain significance Inborn genetic diseases 2021-06-29 criteria provided, single submitter clinical testing The c.11161G>A (p.G3721S) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 11161, causing the glycine (G) at amino acid position 3721 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003750819 SCV004377974 likely benign Spastic paraplegia 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830583 SCV002086160 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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