ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6824C>T (p.Ser2275Leu)

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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 RCV004962625 SCV005498782 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.6824C>T (p.S2275L) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 6824, causing the serine (S) at amino acid position 2275 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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