ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly)

gnomAD frequency: 0.00001  dbSNP: rs769982359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002013930 SCV002301663 likely benign not provided 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046674 SCV004955567 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.32A>G (p.E11G) alteration is located in exon 2 (coding exon 2) of the SPTA1 gene. This alteration results from a A to G substitution at nucleotide position 32, causing the glutamic acid (E) at amino acid position 11 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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