ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)

gnomAD frequency: 0.00026  dbSNP: rs369682692
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595407 SCV000705445 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
Counsyl RCV000664857 SCV000788878 uncertain significance Alstrom syndrome 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000664857 SCV000942023 uncertain significance Alstrom syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3198 of the ALMS1 protein (p.Ser3198Thr). This variant is present in population databases (rs369682692, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical feature of ALMS1-related conditions (PMID: 25468891). This variant is also known as c.9586T>A, p.Ser3196Thr. ClinVar contains an entry for this variant (Variation ID: 499779). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000595407 SCV001789704 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing Observed in the presence of two other ALMS1 variants, phase unknown, in a patient of Puerto Rican background with congenital hearing loss, retinitis pigmentosa, delalyed walking, and a clinical diagnosis of Usher syndrome type I (PMID: 25468891); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(S3196T); This variant is associated with the following publications: (PMID: 25468891)
Ambry Genetics RCV002377234 SCV002690821 uncertain significance Cardiovascular phenotype 2021-10-20 criteria provided, single submitter clinical testing The p.S3198T variant (also known as c.9592T>A), located in coding exon 11 of the ALMS1 gene, results from a T to A substitution at nucleotide position 9592. The serine at codon 3198 is replaced by threonine, an amino acid with similar properties. This variant (referred to as p.S3196T, c.9586T>A) was reportedly detected in the heterozygous state in an individual from an Usher syndrome type 1 cohort; however, details were limited (Bujakowska KM et al. Invest Ophthalmol Vis Sci. 2014 Dec;55(12):8488-96). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000664857 SCV002775071 uncertain significance Alstrom syndrome 2022-03-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664857 SCV002078942 uncertain significance Alstrom syndrome 2020-08-13 no assertion criteria provided clinical testing

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