ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)

gnomAD frequency: 0.00007  dbSNP: rs373226693
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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 RCV000712980 SCV000843540 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534515 SCV003273261 benign Spastic paraplegia 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534514 SCV003629478 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.6178G>C (p.V2060L) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to C substitution at nucleotide position 6178, causing the valine (V) at amino acid position 2060 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830584 SCV002086243 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-12-21 no assertion criteria provided clinical testing

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