ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln)

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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 RCV004184283 SCV003677439 uncertain significance not specified 2022-08-02 criteria provided, single submitter clinical testing The c.2020G>C (p.E674Q) alteration is located in exon 15 (coding exon 15) of the SPTA1 gene. This alteration results from a G to C substitution at nucleotide position 2020, causing the glutamic acid (E) at amino acid position 674 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738331 SCV004548826 benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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