ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) (rs369682692)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 3198 of the ALMS1 protein (p.Ser3198Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs369682692, ExAC 0.04%). This variant has been observed along with two other variants in the same ALMS1 gene in individuals with clinical features of ALMS1-related disease (PMID: 25468891, Invitae). This variant is also known as c.9586T>A, p.Ser3196Thr in the literature. ClinVar contains an entry for this variant (Variation ID: 499779). 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"). 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.

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