ClinVar Miner

Submissions for variant NM_003901.4(SGPL1):c.110A>G (p.Tyr37Cys)

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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 RCV004666242 SCV005157112 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.110A>G (p.Y37C) alteration is located in exon 3 (coding exon 2) of the SGPL1 gene. This alteration results from a A to G substitution at nucleotide position 110, causing the tyrosine (Y) at amino acid position 37 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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