ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3730G>C (p.Asp1244His)

dbSNP: rs2542291522
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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 RCV002707772 SCV003555577 uncertain significance Inborn genetic diseases 2020-12-21 criteria provided, single submitter clinical testing The c.3730G>C (p.D1244H) 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 3730, causing the aspartic acid (D) at amino acid position 1244 to be replaced by a histidine (H). The p.D1244H alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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