ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) (rs754875934)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675051 SCV000800494 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV001049013 SCV001213046 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 124 of the HGSNAT protein (p.Arg124Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs754875934, ExAC 0.002%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 25859010, Invitae). ClinVar contains an entry for this variant (Variation ID: 208815). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). Studies have shown that this variant is associated with partial skipping of exon 3, which introduces a frameshift (PMID:25859010). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075594 SCV001241221 pathogenic Retinal dystrophy 2019-01-18 criteria provided, single submitter clinical testing
OMIM RCV000190843 SCV000245713 pathogenic Retinitis pigmentosa 73 2015-07-01 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003048 SCV001161105 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV000675051 SCV001460465 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-09-16 no assertion criteria provided clinical testing

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