ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp)

gnomAD frequency: 0.00004  dbSNP: rs753398300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895222 SCV002153081 likely benign Multiple sulfatase deficiency 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001895222 SCV002775341 uncertain significance Multiple sulfatase deficiency 2022-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552328 SCV003751800 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.233G>A (p.G78D) alteration is located in exon 1 (coding exon 1) of the SUMF1 gene. This alteration results from a G to A substitution at nucleotide position 233, causing the glycine (G) at amino acid position 78 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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