ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)

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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 RCV002751093 SCV003023884 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002751092 SCV003581615 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.6C>A (p.S2R) alteration is located in exon 1 (coding exon 1) of the HGSNAT gene. This alteration results from a C to A substitution at nucleotide position 6, causing the serine (S) at amino acid position 2 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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