ClinVar Miner

Submissions for variant NM_003118.4(SPARC):c.633C>G (p.His211Gln)

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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 RCV004963963 SCV005509178 uncertain significance Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.633C>G (p.H211Q) alteration is located in exon 8 (coding exon 7) of the SPARC gene. This alteration results from a C to G substitution at nucleotide position 633, causing the histidine (H) at amino acid position 211 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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