ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)

gnomAD frequency: 0.00001  dbSNP: rs368833782
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634793 SCV000756136 uncertain significance Alstrom syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2170 of the ALMS1 protein (p.Ser2170Leu). This variant is present in population databases (rs368833782, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529382). 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.
Fulgent Genetics, Fulgent Genetics RCV000634793 SCV002789639 uncertain significance Alstrom syndrome 2021-11-29 criteria provided, single submitter clinical testing
GeneDx RCV003156269 SCV003845910 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000634793 SCV002082830 uncertain significance Alstrom syndrome 2021-10-19 no assertion criteria provided clinical testing

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