ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6202A>G (p.Ile2068Val)

gnomAD frequency: 0.00001  dbSNP: rs1183868956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003356431 SCV004062201 uncertain significance Inborn genetic diseases 2023-08-31 criteria provided, single submitter clinical testing The c.6202A>G (p.I2068V) 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 6202, causing the isoleucine (I) at amino acid position 2068 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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