ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002657243 SCV003718569 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.466C>A (p.R156S) alteration is located in exon 5 (coding exon 5) of the SGCA gene. This alteration results from a C to A substitution at nucleotide position 466, causing the arginine (R) at amino acid position 156 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140217 SCV003827585 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-15 criteria provided, single submitter clinical testing

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