ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)

gnomAD frequency: 0.00001  dbSNP: rs775981299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307951 SCV001497382 uncertain significance Alstrom syndrome 2022-04-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 425 of the ALMS1 protein (p.Ile425Val). This variant is present in population databases (rs775981299, gnomAD 0.0009%). 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: 1010339). 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 RCV001307951 SCV002797636 uncertain significance Alstrom syndrome 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001307951 SCV002080409 uncertain significance Alstrom syndrome 2021-02-16 no assertion criteria provided clinical testing

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